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Genes:
AC002365.1, AFF2, APLN, ARHGAP6, ARL13A, ARMCX2, ARMCX3, ARMCX4, ARMCX6, ARSD, ARSE, ARSF, ARSH, ASB11, ATP11C, ATP2B3, ATP6AP1, ATP7A, ATRX, ATXN3L, BCOR, BCORL1, BEX2, BGN, BRWD3, C1GALT1C1, CA5B, CCDC160, CENPI, CHRDL1, CITED1, COL4A6, CPXCR1, CSAG1, CT45A5, CT47B1, CXorf21, CXorf38, CXorf40A, CXorf56, CXorf58, CXorf64, CYSLTR1, DCAF8L2, DKC1, DLG3, DMD, DNASE1L1, DOCK11, EBP, EDA2R, EIF2S3, ELK1, ERCC6L, FAAH2, FAM104B, FAM120C, FAM127B, FAM155B, FAM46D, FAM47A, FAM47C, FGF13, FLNA, FOXP3, FOXR2, FRMPD4, FTHL17, GABRE, GABRQ, GDPD2, GLRA2, GLRA4, GPC4, GPM6B, GPR101, GPR112, GPR173, GPR50, GPR82, GPRASP1, GRIA3, GRIPAP1, GRPR, GUCY2F, GYG2, H2BFM, H2BFWT, HCCS, HCFC1, HDHD1, HDX, HEPH, HTATSF1, HUWE1, IDS, IGSF1, IRAK1, IRS4, ITM2A, KAL1, KCNE1L, KIAA1210, KIF4A, KLHL13, KLHL4, LAMP2, LANCL3, LCA10, LONRF3, MAGEA10, MAGEA11, MAGEA12, MAGEA8, MAGEB10, MAGEB16, MAGEB2, MAGEB3, MAGEB4, MAGEC1, MAGEC2, MAGEC3, MAGED1, MAGED2, MAGIX, MAMLD1, MAOA, MAP3K15, MAP7D2, MBTPS2, MCF2, MPP1, MTMR1, MXRA5, NAP1L3, NHS, NHSL2, NKAP, NOX1, NR0B1, NRK, NSDHL, NUDT10, NUDT11, NUP62CL, NXF2, OFD1, OPHN1, OPN1LW, OPN1MW, OPN1MW2, OR13H1, OTC, PAGE2, PAGE3, PCSK1N, PCYT1B, PDHA1, PIN4, PIR, PLXNB3, PNMA3, POF1B, POU3F4, PPEF1, PRKX, PRPS2, PRRG3, PTCHD1, RAB40A, RAI2, RBBP7, RBM3, RBMX, RBMXL3, RGAG1, RIBC1, RP11-706O15.1, RPA4, RPL10, RPS4X, RS1, SAGE1, SATL1, SHROOM2, SHROOM4, SLC16A2, SLC25A43, SLC25A5, SLC7A3, SLC9A7, SLITRK2, SOWAHD, SPANXN2, SPANXN5, SRPK3, SSX5, STARD8, SYTL4, SYTL5, TAB3, TAF7L, TBC1D25, TBC1D8B, TCEAL4, TCEAL6, TCEANC, TENM1, TEX11, TEX13A, TFE3, TGIF2LX, TIMM17B, TIMP1, TLR7, TLR8, TMEM47, TNMD, TXLNG, UBA1, UBE2NL, UPRT, USP26, USP51, VBP1, VCX2, VMA21, VSIG1, WDR13, WWC3, XAGE3, XG, XPNPEP2, ZBTB33, ZCCHC16, ZMAT1, ZNF185, ZNF275, ZNF75D, ZRSR2, ZXDB,

Genes at Omim

AFF2, ARSE, ATP2B3, ATP6AP1, ATP7A, ATRX, BCOR, BGN, BRWD3, C1GALT1C1, CHRDL1, COL4A6, DKC1, DLG3, DMD, EBP, FLNA, FOXP3, FRMPD4, GPR101, GRIA3, HCCS, HCFC1, HUWE1, IDS, IGSF1, KAL1, KIF4A, LAMP2, MAGED2, MAMLD1, MAOA, MBTPS2, NHS, NSDHL, OFD1, OPHN1, OPN1LW, OPN1MW, OTC, PDHA1, POU3F4, PTCHD1, RBMX, RPL10, RS1, SHROOM4, SLC16A2, TEX11, TFE3, UBA1, VMA21, XG, XPNPEP2,
AFF2 Mental retardation, X-linked, FRAXE type, 309548 (3)
ARSE Chondrodysplasia punctata, X-linked recessive, 302950 (3)
ATP2B3 ?Spinocerebellar ataxia, X-linked 1, 302500 (3)
ATP6AP1 Immunodeficiency 47, 300972 (3)
ATP7A Menkes disease, 309400 (3)
Occipital horn syndrome, 304150 (3)
Spinal muscular atrophy, distal, X-linked 3, 300489 (3)
ATRX Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3)
Alpha-thalassemia/mental retardation syndrome, 301040 (3)
Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3)
BCOR Microphthalmia, syndromic 2, 300166 (3)
BGN Spondyloepimetaphyseal dysplasia, X-linked, 300106 (3)
BRWD3 Mental retardation, X-linked 93, 300659 (3)
C1GALT1C1 Tn polyagglutination syndrome, somatic, 300622 (3)
CHRDL1 Megalocornea 1, X-linked 309300 (3)
COL4A6 ?Deafness, X-linked 6, 300914 (3)
DKC1 Dyskeratosis congenita, X-linked, 305000 (3)
DLG3 Mental retardation, X-linked 90, 300850 (3)
DMD Becker muscular dystrophy, 300376 (3)
Cardiomyopathy, dilated, 3B, 302045 (3)
Duchenne muscular dystrophy, 310200 (3)
EBP Chondrodysplasia punctata, X-linked dominant, 302960 (3)
MEND syndrome, 300960 (3)
FLNA Cardiac valvular dysplasia, X-linked, 314400 (3)
Congenital short bowel syndrome, 300048 (3)
FG syndrome 2, 300321 (3)
Frontometaphyseal dysplasia 1, 305620 (3)
Heterotopia, periventricular, 300049 (3)
Intestinal pseudoobstruction, neuronal, 300048 (3)
Melnick-Needles syndrome, 309350 (3)
Otopalatodigital syndrome, type I, 311300 (3)
Otopalatodigital syndrome, type II, 304120 (3)
Terminal osseous dysplasia, 300244 (3)
FOXP3 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3)
{Diabetes mellitus, type I, susceptibility to}, 222100 (3)
FRMPD4 Mental retardation, X-linked 104, 300983 (3)
GPR101 Pituitary adenoma, growth hormone-secreting 2, 300943 (3)
GRIA3 Mental retardation, X-linked 94, 300699 (3)
HCCS Linear skin defects with multiple congenital anomalies 1, 309801 (3)
HCFC1 Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3)
HUWE1 Mental retardation, X-linked syndromic, Turner type, 300706 (3)
IDS Mucopolysaccharidosis II, 309900 (3)
IGSF1 Hypothyroidism, central, and testicular enlargement, 300888 (3)
KAL1 Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 (3)
KIF4A ?Mental retardation, X-linked 100, 300923 (3)
LAMP2 Danon disease, 300257 (3)
MAGED2 Bartter syndrome, type 5, antenatal, transient, 300971 (3)
MAMLD1 Hypospadias 2, X-linked, 300758 (3)
MAOA Brunner syndrome, 300615 (3)
{Antisocial behavior}, 300615 (3)
MBTPS2 ?Olmsted syndrome, X-linked, 300918 (3)
IFAP syndrome with or without BRESHECK syndrome, 308205 (3)
Keratosis follicularis spinulosa decalvans, X-linked, 308800 (3)
NHS Cataract 40, X-linked, 302200 (3)
Nance-Horan syndrome, 302350 (3)
NSDHL CHILD syndrome, 308050 (3)
CK syndrome, 300831 (3)
OFD1 ?Retinitis pigmentosa 23, 300424 (3)
Joubert syndrome 10, 300804 (3)
Orofaciodigital syndrome I, 311200 (3)
Simpson-Golabi-Behmel syndrome, type 2, 300209 (3)
OPHN1 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3)
OPN1LW Blue cone monochromacy, 303700 (3)
Colorblindness, protan, 303900 (3)
OPN1MW Blue cone monochromacy, 303700 (3)
Colorblindness, deutan, 303800 (3)
OTC Ornithine transcarbamylase deficiency, 311250 (3)
PDHA1 Pyruvate dehydrogenase E1-alpha deficiency, 312170 (3)
POU3F4 Deafness, X-linked 2, 304400 (3)
PTCHD1 {Autism, susceptibility to, X-linked 4}, 300830 (3)
RBMX ?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3)
RPL10 {Autism, susceptibility to, X-linked 5}, 300847 (3)
RS1 Retinoschisis, 312700 (3)
SHROOM4 ?Stocco dos Santos X-linked mental retardation syndrome, 300434 (3)
SLC16A2 Allan-Herndon-Dudley syndrome, 300523 (3)
TEX11 Spermatogenic failure, X-linked, 2, 309120 (3)
TFE3 Renal cell carcinoma, papillary, 1, 300854 (3)
UBA1 Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)
VMA21 Myopathy, X-linked, with excessive autophagy, 310440 (3)
XG [Blood group, XG system] (3)
XPNPEP2 {Angioedema induced by ACE inhibitors, susceptibility to}, 300909 (3)

Genes at Clinical Genomics Database

AFF2, ARSE, ATP2B3, ATP7A, ATRX, BCOR, BRWD3, CHRDL1, COL4A6, DKC1, DLG3, DMD, EBP, FLNA, FOXP3, GPR101, GRIA3, HCCS, HCFC1, HUWE1, IDS, IGSF1, KIF4A, LAMP2, MAGED2, MAMLD1, MAOA, MBTPS2, NHS, NR0B1, NSDHL, OFD1, OPHN1, OPN1LW, OPN1MW, OTC, PDHA1, POF1B, POU3F4, PTCHD1, RBMX, RS1, SHROOM4, SLC16A2, TENM1, TEX11, UBA1, VMA21, XG, XPNPEP2,
AFF2 Premature ovarian failure
ARSE Chondrodysplasia punctata 1, X-linked recessive
ATP2B3 Spinocerebellar ataxia, X-linked 1
ATP7A Menkes disease
ATRX Alpha-thalassemia/mental retardation syndrome
Smith-Fineman-Myers syndrome
Holmes-Gang syndrome
Carpenter-Waziri syndrome
Juberg-Marsidi syndrome
Mental retardation-hypotonic facies syndrome, X-linked
BCOR Oculofaciocardiodental syndrome
Microphthalmia, syndromic 2
BRWD3 Mental retardation, X-linked 93
CHRDL1 Megalocornea 1, X-linked
COL4A6 Deafness, X-linked, with cochlear malformation
DKC1 Hoyeraal-Hreidarsson syndrome
Dyskeratosis congenita, X-linked
DLG3 Mental retardation, X-linked 90
DMD Cardiomyopathy, dilated, 3B
Becker muscular dystrophy
Duchenne muscular dystrophy
EBP Male EBP disorder with neurologic defects (MEND)
Chondrodysplasia punctata 2, X-linked dominant
FLNA Intestinal pseudoobstruction, neuronal, X-linked/Congenital short bowel syndrome
Heterotopia, periventricular, Ehlers-Danlos variant
Cardiac valvular dysplasia, X-linked
FOXP3 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX)
GPR101 Pituitary adenoma, growth hormone secreting, 2
GRIA3 Mental retardation, X-linked 94
HCCS Linear skin defects with multiple congenital anomalies 1 (MIDAS syndrome)
HCFC1 Combined methylmalonic acidemia and hyperhomocysteinemia
HUWE1 Mental retardation, X-linked syndromic, Turner type
IDS Mucopolysaccharidosis type II
IGSF1 Central hypothyroidism and testicular enlargement
KIF4A Mental retardation, X-linked 100
LAMP2 Danon disease
MAGED2 Bartter syndrome type 5, antenatal transient
MAMLD1 Hypospadias 2, X-linked
MAOA Brunner syndrome
MBTPS2 Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked
IFAP syndrome with or without BRESHECK syndrome
Keratosis follicularis spinulosa decalvans, X-linked
NHS Cataract 40
Nance-Horan syndrome
NR0B1 46,XY sex reversal 2
Adrenal hypoplasia, congenital
NSDHL CK syndrome
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome)
OFD1 Retinitis pigmentosa 23
Joubert syndrome 10
Simpson-Golabi-Behmel syndrome type 2
Orofaciodigital syndrome 1
OPHN1 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
OPN1LW Red cone polymorphism
Blue cone monochromacy
Colorblindness, partial, protan series
OPN1MW Blue cone monochromacy
Cone dystrophy 5, X-linked
Colorblindness, partial, deutan series
OTC Ornithine transcarbamylase deficiency
PDHA1 Leigh syndrome, X-linked
Pyruvate dehydrogenase E1-alpha deficiency
POF1B Premature ovarian failure 2B
POU3F4 Deafness, X-linked 2
PTCHD1 Autism susceptibility, X-linked 4
RBMX Mental retardation, X-linked, syndromic 11, Shashi type
RS1 Retinoschisis 1, X-linked, juvenile
SHROOM4 Stocco dos Santos X-linked mental retardation syndrome
SLC16A2 Allan-Herndon-Dudley syndrome
TENM1 Microphthalmia, isolated, with coloboma 9
TEX11 Spermatogenic failure, X-linked 2
UBA1 Spinal muscular atrophy, X-linked 2, infantile
VMA21 Myopathy, X-linked, with excessive autophagy
XG XG blood group
XPNPEP2 Angioedema induced by ACE inhibitors, susceptibility to

Genes at HGMD

Summary

Number of Variants: 2124
Number of Genes: 241

Export to: CSV

AC002365.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs5934731
dbSNP
9935844 4636.77 C T . 1/1 139 SYNONYMOUS_CODING LOW SILENT 0.51656 0.51660 None None None None None None None
View mm170241ct X rs5934730
dbSNP
9935526 4790.77 G T . 1/1 129 SYNONYMOUS_CODING LOW SILENT 0.42967 0.42970 None None None None None None None

AFF2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs241084
dbSNP
147800748 1549.77 A G . 0/1 98 None None None 0.28106 0.28110 0.30 0.00 None None None None None None None

APLN

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs3115758
dbSNP
128781864 234.77 C A . 0/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46861 0.46860 1.00 0.00 None None None None None None None

ARHGAP6

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X . 11157512 503.77 C A . 0/1 39 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.88 None None None None None None None

ARL13A

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs6523438
dbSNP
100245606 5941.77 A G . 1/1 176 None None None 0.85642 0.85640 0.16250 None None None None None None None
View mm170241ct X rs41307262
dbSNP
100242536 915.77 C T . 0/1 67 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12636 0.12640 0.14739 0.13 0.01 None None None None None None None
View mm170241ct X rs3934462
dbSNP
100243459 6508.77 G T . 1/1 188 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.91338 0.91340 0.10304 0.12 0.00 None None None None None None None

ARMCX2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs3850315
dbSNP
100911066 3111.77 C T . 1/1 87 SYNONYMOUS_CODING LOW SILENT 0.96689 0.96690 0.05737 None None None None None None None

ARMCX3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs3205455
dbSNP
100880857 1327.77 G A . 0/1 99 SYNONYMOUS_CODING LOW SILENT 0.09801 0.09801 0.09603 None None None None None None None

ARMCX4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs963618
dbSNP
100743037 1436.77 C T . 1/1 41 START_GAINED LOW 0.65987 0.65990 None None None None None None None
View mm170241ct X rs3174476
dbSNP
100749585 3184.79 C T . 1/1 92 SYNONYMOUS_CODING LOW SILENT 0.44106 0.44110 None None None None None None None
View mm170241ct X rs5951336
dbSNP
100749127 457.77 A G . 1/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.69166 0.69170 0.00 None None None None None None None
View mm170241ct X rs782433301
dbSNP
100749041 11.83 A G LowQual 1/1 1 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62 None None None None None None None
View mm170241ct X rs34379067
dbSNP
100749038 11.83 C T LowQual 1/1 1 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.69 None None None None None None None
View mm170241ct X rs5991911
dbSNP
100748078 887.77 A G . 1/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.00 None None None None None None None
View mm170241ct X rs5951333
dbSNP
100745825 2994.77 T C . 1/1 88 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.66199 0.66200 0.00 None None None None None None None
View mm170241ct X rs5951332
dbSNP
100743826 2183.77 A G . 1/1 65 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.61934 0.61930 0.00 None None None None None None None
View mm170241ct X rs6621080
dbSNP
100743546 670.77 C T . 0/1 41 None None None 0.12477 0.12480 None None None None None None None

ARMCX6

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs35319186
dbSNP
100871148 483.77 T C . 0/1 55 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.09828 0.09828 0.09144 0.18 0.08 None None None None None None None

ARSD

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs211653
dbSNP
2836037 1867.77 G C . 1/1 54 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40636 0.40640 0.44466 0.13 0.05 None None None None None None None

ARSE

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs35143646
dbSNP
2856155 488.77 C T . 1/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.57457 0.57460 0.49223 0.18 0.98 None None None None None None None
View mm170241ct X rs11222,rs74787451
dbSNP
2852951 645.77 G A . 1/1 19 SYNONYMOUS_CODING LOW SILENT 0.56583 0.56580 0.45809 None None None None None None None

ARSF

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs5983003
dbSNP
3002687 1877.77 A G . 1/1 56 SYNONYMOUS_CODING LOW SILENT 0.79364 0.79360 0.29556 None None None None None None None

ARSH

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs5939407
dbSNP
2942109 430.77 T C . 0/1 33 SYNONYMOUS_CODING LOW SILENT 0.74702 0.74700 0.36846 None None None None None None None

ASB11

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs5935944
dbSNP
15332558 2767.77 A G . 0/1 206 None None None 0.35921 0.35920 0.32046 None None None None None None None

ATP11C

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs2491014
dbSNP
138897130 3565.77 A C . 1/1 108 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99205 0.99210 0.01516 1.00 0.00 None None None None None None None

ATP2B3

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X . 152813384 540.77 C A . 0/1 40 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View mm170241ct X rs3020949
dbSNP
152815089 2078.77 A G . 1/1 66 SYNONYMOUS_CODING LOW SILENT 0.98543 0.98540 0.01051 None None None None None None None

ATP6AP1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs28497482
dbSNP
153657083 298.78 A G . 1/1 11 SYNONYMOUS_CODING LOW SILENT 0.89351 0.89350 0.09485 None None None None None None None

ATP7A

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs4826245
dbSNP
77298857 5069.77 G A . 1/1 144 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 1.00 0.00 None None None None None None None

ATRX

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs3088074
dbSNP
76937963 6210.77 G C . 1/1 179 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.55232 0.55230 0.49167 0.00 None None None None None None None

ATXN3L

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs17322143
dbSNP
13337115 1678.77 C T . 0/1 133 SYNONYMOUS_CODING LOW SILENT 0.08238 0.08238 0.08049 None None None None None None None
View mm170241ct X rs4830842
dbSNP
13337059 1572.77 C T . 0/1 121 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.65351 0.65350 0.47569 1.00 0.00 None None None None None None None

BCOR

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs5917933
dbSNP
39933339 1515.77 A G . 0/1 90 SYNONYMOUS_CODING LOW SILENT 0.90305 0.90300 0.10425 None None None None None None None

BCORL1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs4830173
dbSNP
129147079 3179.76 T C . 1/1 88 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.00 None None None None None None None
View mm170241ct X rs5932715
dbSNP
129147373 1334.77 G A . 0/1 96 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02596 0.02596 0.07053 0.00 None None None None None None None

BEX2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs7557
dbSNP
102564583 1116.77 A G . 0/1 75 SYNONYMOUS_CODING LOW SILENT 0.83285 0.83280 0.30247 None None None None None None None

BGN

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs1126499
dbSNP
152771509 770.77 C T . 0/1 48 SYNONYMOUS_CODING LOW SILENT 0.33536 0.33540 0.35624 None None None None None None None
View mm170241ct X rs4833
dbSNP
152770230 1193.77 G A . 0/1 74 SYNONYMOUS_CODING LOW SILENT 0.38861 0.38860 0.35757 None None None None None None None

BRWD3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs3122407
dbSNP
79943569 12102.77 T C . 1/1 352 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.98967 0.98970 0.00975 1.00 0.00 None None None None None None None

C1GALT1C1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs17261572
dbSNP
119760629 2302.77 A T . 0/1 176 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14755 0.14750 0.15983 1.00 0.00 None None None None None None None

CA5B

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs1808
dbSNP
15800751 1199.77 G A . 0/1 86 SYNONYMOUS_CODING LOW SILENT 0.34782 0.34780 0.31696 None None None None None None None

CCDC160

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs2428577
dbSNP
133379551 10671.77 C T . 1/1 328 SYNONYMOUS_CODING LOW SILENT 1.00000 1.00000 None None None None None None None

CENPI

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs2273380
dbSNP
100395663 3411.77 G T . 0/1 215 SYNONYMOUS_CODING LOW SILENT 0.32795 0.32790 0.30702 None None None None None None None

CHRDL1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs5943053
dbSNP
109931856 4409.77 T C . 1/1 123 SYNONYMOUS_CODING LOW SILENT 0.38782 0.38780 0.46246 None None None None None None None

CITED1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs3012627
dbSNP
71521867 995.77 G C . 1/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80927 0.80930 0.08629 1.00 0.00 None None None None None None None

COL4A6

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs1042065
dbSNP
107433688 2126.77 A G . 0/1 169 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.57325 0.57320 0.25741 0.00 None None None None None None None
View mm170241ct X rs1266719
dbSNP
107437848 1760.77 G C . 0/1 116 None None None 0.44980 0.44980 0.36476 0.00 None None None None None None None
View mm170241ct X rs4623610
dbSNP
107418906 3215.74 A G . 1/1 98 SYNONYMOUS_CODING LOW SILENT 0.98384 0.98380 0.01695 None None None None None None None
View mm170241ct X rs5973851
dbSNP
107417730 774.77 G A . 0/1 60 SYNONYMOUS_CODING LOW SILENT 0.40609 0.40610 0.23260 None None None None None None None

CPXCR1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs5940915
dbSNP
88008423 3668.77 A C . 1/1 110 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.91364 0.91360 0.09442 1.00 0.00 None None None None None None None
View mm170241ct X rs5984611
dbSNP
88008807 3716.77 G A . 0/1 255 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23046 0.23050 0.32926 0.63 0.92 None None None None None None None

CSAG1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs2515848
dbSNP
151909156 1029.77 A G . 0/1 80 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.57642 0.57640 0.36315 0.55 0.00 None None None None None None None

CT45A5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs2034920
dbSNP
134948034 1286.77 A G . 0/1 86 SYNONYMOUS_CODING LOW SILENT 0.83470 0.83470 0.22066 None None None None None None None

CT47B1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs871733
dbSNP
120008979 133.77 T C . 0/1 9 SYNONYMOUS_CODING LOW SILENT 0.67894 0.67890 0.37382 None None None None None None None

CXorf21

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs887369
dbSNP
30577846 2591.77 A C . 0/1 177 SYNONYMOUS_CODING LOW SILENT 0.89722 0.89720 0.19572 None None None None None None None

CXorf38

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs6610447
dbSNP
40506697 1770.77 A G . 1/1 49 SYNONYMOUS_CODING LOW SILENT 0.97669 0.97670 0.03974 None None None None None None None

CXorf40A

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs12116111
dbSNP
148628490 957.77 A T . 1/1 59 SYNONYMOUS_CODING LOW SILENT 0.94252 0.94250 None None None None None None None
View mm170241ct X rs626560,rs145921071
dbSNP
148627384 1377.77 A G . 1/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.94013 0.94010 1.00 0.00 None None None None None None None

CXorf56

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs5910611
dbSNP
118678364 1598.77 G A . 1/1 47 SYNONYMOUS_CODING LOW SILENT 0.60583 0.60580 0.42658 None None None None None None None

CXorf58

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs2707164
dbSNP
23928489 1655.77 C T . 1/1 47 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37007 0.37010 0.46161 0.19 0.01 None None None None None None None

CXorf64

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs2269777
dbSNP
125955428 3853.77 G A . 1/1 124 SYNONYMOUS_CODING LOW SILENT 0.31205 0.31210 0.37444 None None None None None None None

CYSLTR1

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs320995
dbSNP
77528317 9087.77 G A . 1/1 266 SYNONYMOUS_CODING LOW SILENT 0.66305 0.66300 0.25994 None None None None None None None

DCAF8L2

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs113826309
dbSNP
27765100 1094.77 G A . 0/1 93 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06278 0.06278 0.06639 0.01 0.71 None None None None None None None
View mm170241ct X rs5926895
dbSNP
27766045 1746.77 A G . 0/1 109 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16609 0.16610 0.29167 0.53 0.02 None None None None None None None

DKC1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs2728532
dbSNP
153994596 2157.77 G T . 1/1 63 SYNONYMOUS_CODING LOW SILENT 0.99258 0.99260 0.00814 None None None None None None None

DLG3

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs2281868
dbSNP
69668463 837.77 A G . 0/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.57616 0.57620 0.18 0.02 None None None None None None None

DMD

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs1800280
dbSNP
31496350 2172.77 C T . 1/1 66 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.88185 0.88190 0.04318 0.00 None None None None None None None
View mm170241ct X rs34102501
dbSNP
32381048 1190.77 G A . 0/1 89 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00318 0.00318 0.00313 0.84 None None None None None None None
View mm170241ct X rs228406
dbSNP
32503194 5241.77 T C . 1/1 152 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.74834 0.74830 0.34978 0.00 None None None None None None None
View mm170241ct X rs1800265
dbSNP
32716110 933.77 C T . 0/1 54 SYNONYMOUS_CODING LOW SILENT 0.15099 0.15100 0.17613 None None None None None None None
View mm170241ct X rs1800275
dbSNP
31893307 1365.77 T G . 0/1 95 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.18331 0.18330 0.20464 0.00 None None None None None None None

DNASE1L1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs1130929
dbSNP
153633359 2417.77 G C . 1/1 76 SYNONYMOUS_CODING LOW SILENT 0.69722 0.69720 0.31923 None None None None None None None

DOCK11

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs2286977
dbSNP
117700141 1422.77 A G . 0/1 114 SYNONYMOUS_CODING LOW SILENT 0.38649 0.38650 0.30257 None None None None None None None

EBP

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs3048
dbSNP
48382174 347.77 G T . 0/1 18 SYNONYMOUS_CODING LOW SILENT 0.00053 0.00053 0.29272 None None None None None None None

EDA2R

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs1385698
dbSNP
65822607 1078.77 T C . 1/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.92901 0.92900 0.08077 0.38 0.00 None None None None None None None
View mm170241ct X rs1385699
dbSNP
65824986 1290.77 C T . 1/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.66543 0.66540 0.44012 0.84 0.01 None None None None None None None

EIF2S3

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs36018672
dbSNP
24073761 2189.77 C T . 0/1 195 SYNONYMOUS_CODING LOW SILENT 0.36318 0.36320 0.49986 None None None None None None None

ELK1

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs2229088
dbSNP
47497564 703.77 G T . 0/1 36 SYNONYMOUS_CODING LOW SILENT 0.00318 0.00318 0.00537 None None None None None None None

ERCC6L

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs45448501
dbSNP
71426341 4146.77 C T . 0/1 318 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01960 0.01960 0.03314 0.36 0.02 None None None None None None None

FAAH2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs4826543
dbSNP
57405163 2108.77 T C . 1/1 58 SYNONYMOUS_CODING LOW SILENT 0.91815 0.91810 0.08823 None None None None None None None
View mm170241ct X rs1367830
dbSNP
57475132 7907.77 T C . 1/1 237 SYNONYMOUS_CODING LOW SILENT 0.47073 0.47070 0.49181 None None None None None None None

FAM104B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs111638770
dbSNP
55172680 147.77 G C . 0/1 254 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View mm170241ct X rs1047037
dbSNP
55172687 3686.77 T C . 0/1 240 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18 0.04 None None None None None None None
View mm170241ct X rs1047054
dbSNP
55172537 10311.77 G A . 0/1 412 None None None None None None None None None None
View mm170241ct X rs111573608
dbSNP
55172572 2497.77 G A . 0/1 373 None None None 1.00 0.00 None None None None None None None
View mm170241ct X rs5018688
dbSNP
55172716 122.77 C T . 0/1 198 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11 0.97 None None None None None None None
View mm170241ct X . 55172586 397.77 G A . 0/1 352 None None None None None None None None None None
View mm170241ct X rs113745415
dbSNP
55172606 1109.77 G A . 0/1 304 None None None 0.00 0.03 None None None None None None None
View mm170241ct X rs113263757
dbSNP
55172630 1033.77 G A . 0/1 286 STOP_GAINED HIGH NONSENSE None None None None None None None
View mm170241ct X rs1047042
dbSNP
55172645 5160.77 C T . 0/1 257 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00132 0.00133 0.84 0.00 None None None None None None None
View mm170241ct X rs751109928
dbSNP
55172675 690.77 C T . 0/1 259 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.14 None None None None None None None
View mm170241ct X rs1047034
dbSNP
55172708 2657.77 T G . 0/1 207 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.06 None None None None None None None

FAM120C

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs2495783
dbSNP
54209387 400.77 A G . 1/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 1.00 0.00 None None None None None None None

FAM127B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs2498776
dbSNP
134185997 349.77 T A . 1/1 12 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00026 0.72080 0.20301 0.01 0.51 None None None None None None None

FAM155B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs187723921
dbSNP
68725383 414.77 G A . 0/1 19 SYNONYMOUS_CODING LOW SILENT 0.01272 0.01272 None None None None None None None
View mm170241ct X rs1171942
dbSNP
68725640 3368.77 T C . 1/1 100 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.64318 0.64320 0.48702 0.30 0.00 None None None None None None None

FAM46D

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs1113265
dbSNP
79698593 10070.77 C G . 1/1 275 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37245 0.37250 0.40570 1.00 0.02 None None None None None None None

FAM47A

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct X rs1811716
dbSNP
34149267 647.77 C A . 0/1 64 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24927 0.24930 0.24474 0.23 0.00 None None None None None None None