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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
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EXCLUDE ALL VARIANTS PRESENT IN DBSNP
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MCAP

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Genes at Omim

AFG3L2, ASXL3, ATP5A1, ATP8B1, BCL2, CTDP1, DCC, DSC2, DSC3, DSG1, DSG2, DSG4, DTNA, EPG5, FECH, KCTD1, LAMA1, LAMA3, LMAN1, LOXHD1, LPIN2, MC4R, MOCOS, MYO5B, NDUFV2, NPC1, NPC1, PIEZO2, PIGN, RAX, RTTN, SERPINB8, SETBP1, SLC14A1, SMAD7, SMCHD1, SS18, TAF4B, TCF4, TNFRSF11A, TSHZ1,
AFG3L2 Ataxia, spastic, 5, autosomal recessive, 614487 (3)
Spinocerebellar ataxia 28, 610246 (3)
ASXL3 Bainbridge-Ropers syndrome, 615485 (3)
ATP5A1 ?Combined oxidative phosphorylation deficiency 22, 616045 (3)
?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4, 615228 (3)
ATP8B1 Cholestasis, benign recurrent intrahepatic, 243300 (3)
Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3)
Cholestasis, progressive familial intrahepatic 1, 211600 (3)
BCL2 Leukemia/lymphoma, B-cell, 2 (3)
CTDP1 Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3)
DCC Colorectal cancer, somatic, 114500 (3)
Esophageal carcinoma, somatic 133239 (3)
Mirror movements 1, 157600 (3)
DSC2 Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476 (3)
Arrhythmogenic right ventricular dysplasia 11, 610476 (3)
DSC3 ?Hypotrichosis and recurrent skin vesicles, 613102 (3)
DSG1 Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 (3)
Keratosis palmoplantaris striata I, AD, 148700 (3)
DSG2 Arrhythmogenic right ventricular dysplasia 10, 610193 (3)
Cardiomyopathy, dilated, 1BB, 612877 (3)
DSG4 Hypotrichosis 6, 607903 (3)
DTNA Left ventricular noncompaction 1, with or without congenital heart defects, 604169 (3)
EPG5 Vici syndrome, 242840 (3)
FECH Protoporphyria, erythropoietic, autosomal recessive, 177000 (3)
KCTD1 Scalp-ear-nipple syndrome, 181270 (3)
LAMA1 Poretti-Boltshauser syndrome, 615960 (3)
LAMA3 Epidermolysis bullosa, generalized atrophic benign, 226650 (3)
Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Laryngoonychocutaneous syndrome, 245660 (3)
LMAN1 Combined factor V and VIII deficiency, 227300 (3)
LOXHD1 Deafness, autosomal recessive 77, 613079 (3)
LPIN2 Majeed syndrome, 609628 (3)
MC4R Obesity, autosomal dominant, 601665 (3)
MOCOS Xanthinuria, type II, 603592 (3)
MYO5B Microvillus inclusion disease, 251850 (3)
NDUFV2 Mitochondrial complex I deficiency, 252010 (3)
NPC1 {Nasopharyngeal carcinoma 1} (2)
NPC1 Niemann-Pick disease, type C1, 257220 (3)
Niemann-Pick disease, type D, 257220 (3)
PIEZO2 ?Marden-Walker syndrome, 248700 (3)
Arthrogryposis, distal, type 3, 114300 (3)
Arthrogryposis, distal, type 5, 108145 (3)
PIGN Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3)
RAX Microphthalmia, isolated 3, 611038 (3)
RTTN Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3)
SERPINB8 Peeling skin syndrome 5, 617115 (3)
SETBP1 Mental retardation, autosomal dominant 29, 616078 (3)
Schinzel-Giedion midface retraction syndrome, 269150 (3)
SLC14A1 [Blood group, Kidd], 111000 (3)
SMAD7 {Colorectal cancer, susceptibility to, 3}, 612229 (3)
SMCHD1 Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 (3)
SS18 Sarcoma, synovial (1)
TAF4B ?Spermatogenic failure 13, 615841 (3)
TCF4 Corneal dystrophy, Fuchs endothelial, 3, 613267 (3)
Pitt-Hopkins syndrome, 610954 (3)
TNFRSF11A Osteolysis, familial expansile, 174810 (3)
Osteopetrosis, autosomal recessive 7, 612301 (3)
{Paget disease of bone 2, early-onset}, 602080 (3)
TSHZ1 Aural atresia, congenital, 607842 (3)

Genes at Clinical Genomics Database

AFG3L2, ASXL3, ATP5A1, ATP8B1, CTDP1, DCC, DSC2, DSC3, DSG1, DSG2, DSG4, DTNA, EPG5, FECH, LAMA1, LAMA3, LMAN1, LOXHD1, LPIN2, MC4R, MYO5B, NDUFV2, NPC1, PIEZO2, PIGN, RAX, RTTN, SETBP1, SLC14A1, SMCHD1, TAF4B, TCF4, TNFRSF11A, TSHZ1,
AFG3L2 Spastic ataxia 5, autosomal recessive
Spinocerebellar ataxia 28
ASXL3 Bainbridge-Ropers syndrome
ATP5A1 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4
Combined oxidative phosphorylation deficiency 22
ATP8B1 Intrahepatic cholestasis of pregnancy
Cholestasis, progressive familial intrahepatic 1
Familial intrahepatic cholestasis, recurrent
CTDP1 Congenital cataracts, facial dysmorphism, and neuropathy
DCC Mirror movements 1
DSC2 Arrhythmogenic right ventricular dysplasia with palmoplantar keratoderma and woolly hair
Arrhythmogenic right ventricular dysplasia, familial, 11
DSC3 Hypotrichosis and recurrent skin vesicles
DSG1 Severe dermatitis, multiple allergies, and metabolic wasting syndrome (SAM syndrome)
DSG2 Arrhythmogenic right ventricular dysplasia, familial, 10
Cardiomyopathy, dilated, 1BB
DSG4 Hypotrichosis 6
DTNA Left ventricular noncompaction 1
EPG5 Vici syndrome
FECH Protoporphyria, erythropoietic
LAMA1 Poretti-Boltshauser syndrome
LAMA3 Epidermolysis bullosa, generalized atrophic benign
Epidermolysis bullosa, junctional, Herlitz type
Laryngoonychocutaneous syndrome
LMAN1 Combined factor V and VIII deficiency
LOXHD1 Deafness, autosomal recessive 77
LPIN2 Majeed syndrome
MC4R Obesity, autosomal dominant
MYO5B Diarrhea 2, with microvillus atrophy
NDUFV2 Mitochondrial complex I deficiency
NPC1 Niemann-Pick disease, type D
Niemann-Pick disease, type C1
PIEZO2 Marden-Walker syndrome
Distal arthrogryposis type 5
Distal arthrogryposis type 3
PIGN Multiple congenital anomalies-hypotonia-seizures syndrome 1
RAX Microphthalmia, isolated 3
RTTN Microcephaly, short stature, and polymicrogyria with or without seizures
SETBP1 Schinzel-Giedion midface retraction syndrome
Mental retardation, autosomal dominant 29
SLC14A1 Blood group, Kidd
SMCHD1 Facioscapulohumeral muscular dystrophy, type 2
TAF4B Spermatogenic failure 13
TCF4 Pitt-Hopkins syndrome
Corneal dystrophy, Fuchs endothelial, 3
TNFRSF11A Osteopetrosis, autosomal recessive 7
Paget disease of bone 2, early-onset
Familial expansile osteolysis
TSHZ1 Aural atresia, congenital

Genes at HGMD

Summary

Number of Variants: 2315
Number of Genes: 162

Export to: CSV

COLEC12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 18 rs8098850
dbSNP
335099 292.77 T C . 0/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04453 0.04453 0.06027 0.95 0.00 None None None None None None T
View mm170241ct 18 rs2305025
dbSNP
334994 509.77 A G . 1/1 16 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62520 0.62520 0.38088 1.00 0.00 None None None None None None T

CTAGE1

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 18 rs9946136
dbSNP
19995731 552.77 T C . 0/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18710 0.18710 0.23979 0.07 0.00 None None None None None None None
View mm170241ct 18 rs9946145
dbSNP
19995753 1262.77 T C . 1/1 38 SYNONYMOUS_CODING LOW SILENT 0.68550 0.68550 0.26563 None None None None None None None

CTDP1

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 18 rs2279103
dbSNP
77473127 627.77 C T . 0/1 58 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08267 0.08267 0.13132 0.74 0.00 None None None None None None None
View mm170241ct 18 rs626169
dbSNP
77513721 1630.77 T C . 1/1 52 SYNONYMOUS_CODING LOW SILENT 0.89517 0.89520 0.10357 None None None None None None None
View mm170241ct 18 . 77464888 428.77 G C . 0/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

CTIF

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 18 rs1038308
dbSNP
46284587 1524.77 T C . 1/1 47 SYNONYMOUS_CODING LOW SILENT 0.85903 0.85900 0.16408 None None None None None None None
View mm170241ct 18 rs3764481
dbSNP
46343666 202.77 C T . 0/1 11 SYNONYMOUS_CODING LOW SILENT 0.13518 0.13520 0.10687 None None None None None None None

CXXC1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 18 rs11555886
dbSNP
47812587 1056.77 C T . 0/1 83 SYNONYMOUS_CODING LOW SILENT 0.07069 0.07069 0.10111 None None None None None None None
View mm170241ct 18 rs7228084
dbSNP
47810351 2100.77 A G . 1/1 63 SYNONYMOUS_CODING LOW SILENT 0.71446 0.71450 0.31370 None None None None None None None

DCC

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 18 rs2270951
dbSNP
50942653 2088.77 C T . 0/1 159 None None None 0.31030 0.31030 0.03 0.00 None None None None None None None
View mm170241ct 18 rs2229080
dbSNP
50432602 829.77 C G . 0/1 70 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.47744 0.47740 0.35937 0.07 0.06 None None None None None None None
View mm170241ct 18 rs9951523
dbSNP
49867224 1221.77 T C . 1/1 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99581 0.99580 0.01084 0.53 0.00 None None None None None None None
View mm170241ct 18 rs2229082
dbSNP
50936994 1713.77 T C . 0/1 131 SYNONYMOUS_CODING LOW SILENT 0.31030 0.31030 0.43587 None None None None None None None

DLGAP1

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 18 rs56017170
dbSNP
3581966 635.77 G A . 0/1 50 SYNONYMOUS_CODING LOW SILENT 0.12300 0.12300 0.19814 None None None None None None None
View mm170241ct 18 rs35715722
dbSNP
3534322 931.77 G A . 0/1 70 SYNONYMOUS_CODING LOW SILENT 0.01957 0.01957 0.02230 None None None None None None None
View mm170241ct 18 rs34171157
dbSNP
3534282 1041.77 G A . 0/1 80 SYNONYMOUS_CODING LOW SILENT 0.01717 0.01717 0.01922 None None None None None None None

DOK6

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 18 rs4426448
dbSNP
67365668 4000.77 A G . 1/1 129 SYNONYMOUS_CODING LOW SILENT 0.48502 0.48500 0.45917 None None None None None None None
View mm170241ct 18 rs8099030
dbSNP
67345034 1129.77 T C . 1/1 31 SYNONYMOUS_CODING LOW SILENT 0.79313 0.79310 0.23581 None None None None None None None

DSC1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 18 rs2249810
dbSNP
28734749 2794.77 A G . 0/1 253 SYNONYMOUS_CODING LOW SILENT 0.47863 0.47860 0.47417 None None None None None None None
View mm170241ct 18 rs2577074
dbSNP
28722103 2149.77 T C . 0/1 184 SYNONYMOUS_CODING LOW SILENT 0.34465 0.34460 0.26003 None None None None None None None
View mm170241ct 18 rs2577075
dbSNP
28722039 1674.77 G A . 0/1 130 SYNONYMOUS_CODING LOW SILENT 0.34465 0.34460 0.25988 None None None None None None None
View mm170241ct 18 rs17800159
dbSNP
28720147 2287.77 C T . 0/1 142 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18630 0.18630 0.09365 0.04 1.00 None None None None None None None

DSC2

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 18 rs12954874
dbSNP
28673565 2641.77 T C . 0/1 199 SYNONYMOUS_CODING LOW SILENT 0.12360 0.12360 0.10710 None None None None None None None

DSC3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 18 rs276938
dbSNP
28610988 2295.77 C T . 1/1 66 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43550 0.43550 0.32739 0.55 0.00 None None None None None None None
View mm170241ct 18 rs276937
dbSNP
28611061 3573.77 A T . 1/1 106 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43490 0.43490 0.32516 0.13 0.11 None None None None None None None
View mm170241ct 18 rs1313586
dbSNP
28586964 2284.77 A G . 0/1 186 SYNONYMOUS_CODING LOW SILENT 0.59425 0.59420 0.46948 None None None None None None None

DSEL

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 18 rs2279269
dbSNP
65179829 5786.77 G A . 1/1 162 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43550 0.43550 0.45141 1.00 0.00 None None None None None None None

DSG1

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 18 rs1426310
dbSNP
28898294 2906.77 A G . 0/1 226 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.36262 0.36260 0.47993 1.00 0.00 None None None None None None None
View mm170241ct 18 rs3752095
dbSNP
28934681 1247.77 A T . 0/1 109 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11542 0.11540 0.13686 0.00 1.00 None None None None None None None
View mm170241ct 18 rs12967407
dbSNP
28913599 1578.77 C T . 0/1 103 SYNONYMOUS_CODING LOW SILENT 0.32768 0.32770 0.43649 None None None None None None None

DSG2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 18 rs2230233
dbSNP
29104698 3980.77 C T . 0/1 269 SYNONYMOUS_CODING LOW SILENT 0.52656 0.52660 0.49412 None None None None None None None
View mm170241ct 18 rs1791235
dbSNP
29126670 2626.77 T C . 0/1 182 SYNONYMOUS_CODING LOW SILENT 0.54293 0.54290 0.47309 None None None None None None None
View mm170241ct 18 rs1042769
dbSNP
29125854 2450.77 A G . 0/1 193 SYNONYMOUS_CODING LOW SILENT 0.19748 0.19750 0.18015 None None None None None None None

DSG3

Omim - GeneCards - NCBI
Options Individual Chr
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Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 18 rs1380866
dbSNP
29055957 2489.77 A G . 1/1 73 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99920 0.99920 0.00185 0.79 0.00 None None None None None None None

DSG4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 18 rs12960081
dbSNP
28993183 2608.77 A G . 0/1 205 SYNONYMOUS_CODING LOW SILENT 0.39337 0.39340 0.39174 None None None None None None None
View mm170241ct 18 rs7234288
dbSNP
28993501 4039.77 C A . 1/1 115 SYNONYMOUS_CODING LOW SILENT 0.74321 0.74320 0.27807 None None None None None None None
View mm170241ct 18 rs4799570
dbSNP
28986333 2149.77 A C . 1/1 60 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96586 0.96590 0.07566 1.00 0.00 None None None None None None None
View mm170241ct 18 rs16959856
dbSNP
28968371 7006.77 G A . 1/1 204 SYNONYMOUS_CODING LOW SILENT 0.72065 0.72060 0.30568 None None None None None None None
View mm170241ct 18 rs9956865
dbSNP
28968959 3562.77 C T . 1/1 108 SYNONYMOUS_CODING LOW SILENT 0.80491 0.80490 0.22124 None None None None None None None

DTNA

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 18 rs9944927
dbSNP
32470291 692.77 G A . 0/1 45 None None None 0.26697 0.26700 0.73 0.00 None None None None None None None

DYNAP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 18 rs9947055
dbSNP
52265308 3061.77 A C . 0/1 210 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.53674 0.53670 0.48393 0.03 0.00 None None None None None None None

ELP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 18 rs1785928
dbSNP
33725931 4320.77 G A . 1/1 128 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32169 0.32170 0.37044 1.00 0.00 None None None None None None None
View mm170241ct 18 rs1785932
dbSNP
33719434 586.77 C T . 1/1 17 SYNONYMOUS_CODING LOW SILENT 0.24521 0.24520 None None None None None None None
View mm170241ct 18 rs1785934
dbSNP
33718326 1661.77 A C . 1/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32049 0.32050 0.36960 0.20 0.05 None None None None None None None
View mm170241ct 18 rs8299
dbSNP
33750046 2294.77 C T . 1/1 71 SYNONYMOUS_CODING LOW SILENT 0.32368 0.32370 0.37906 None None None None None None None

EMILIN2

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 18 rs592120
dbSNP
2885118 59.77 C T . 0/1 8 SYNONYMOUS_CODING LOW SILENT 0.17053 0.17050 0.29402 None None None None None None None
View mm170241ct 18 rs16943989
dbSNP
2892474 789.77 G A . 0/1 57 SYNONYMOUS_CODING LOW SILENT 0.15855 0.15850 0.13294 None None None None None None None

ENOSF1

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 18 rs2612086
dbSNP
691266 1137.77 A G . 0/1 85 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.25559 0.25560 0.34092 0.17 0.00 None None None None None None T|T|T|.

EPB41L3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 18 rs3817466
dbSNP
5410574 1676.77 A G . 1/1 54 SYNONYMOUS_CODING LOW SILENT 0.71166 0.71170 None None None None None None None

EPG5

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 18 rs3744998
dbSNP
43497710 5450.77 A G . 1/1 158 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42692 0.42690 0.47968 0.00 0.93 None None None None None None None

ESCO1

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 18 rs973730
dbSNP
19153494 9010.77 C T . 1/1 265 SYNONYMOUS_CODING LOW SILENT 0.86781 0.86780 0.17415 None None None None None None None

FAM210A

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 18 rs35493157
dbSNP
13681962 1940.77 A T . 0/1 122 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01657 0.01657 0.03222 0.29 0.00 None None None None None None None

FAM69C

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 18 rs2278154
dbSNP
72103782 32.77 T C . 0/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33506 0.33510 0.36292 1.00 0.00 None None None None None None None
View mm170241ct 18 rs8087020
dbSNP
72114455 1454.77 C T . 1/1 47 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98323 0.98320 0.01621 1.00 0.00 None None None None None None None

FBXO15

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 18 rs35815390
dbSNP
71740743 3030.77 A G . 0/1 214 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02875 0.02875 0.05890 0.02 0.47 None None None None None None None

FECH

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 18 rs536560
dbSNP
55221648 2530.77 T C . 1/1 80 SYNONYMOUS_CODING LOW SILENT 0.75759 0.75760 0.23535 None None None None None None None
View mm170241ct 18 rs1041951
dbSNP
55240505 1236.77 C T . 0/1 79 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05172 0.05172 0.12141 0.30 0.02 None None None None None None None
View mm170241ct 18 rs536765
dbSNP
55226383 7249.77 G C . 1/1 215 SYNONYMOUS_CODING LOW SILENT 0.74960 0.74960 0.23635 None None None None None None None

FHOD3

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 18 rs2848901
dbSNP
34232610 263.77 C T . 0/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.31949 0.31950 0.06 0.09 None None None None None None None
View mm170241ct 18 rs3744903
dbSNP
34310668 2040.77 C T . 0/1 140 SYNONYMOUS_CODING LOW SILENT 0.31949 0.31950 0.29048 None None None None None None None
View mm170241ct 18 rs2303510
dbSNP
34324091 969.77 G A . 0/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37620 0.37620 0.35545 0.11 0.08 None None None None None None None

GALR1

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 18 rs5374
dbSNP
74962645 1531.77 T C . 1/1 48 SYNONYMOUS_CODING LOW SILENT 0.48982 0.48980 0.41187 None None None None None None None
View mm170241ct 18 rs5376
dbSNP
74980809 6071.77 G A . 1/1 176 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.90615 0.90620 0.10443 0.67 0.00 None None None None None None None

GAREM

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 18 rs3786308
dbSNP
29972964 357.77 A G . 0/1 28 SYNONYMOUS_CODING LOW SILENT 0.15395 0.15400 0.13140 None None None None None None None
View mm170241ct 18 rs34795598
dbSNP
29848028 1472.77 T C . 0/1 129 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03594 0.03594 0.03883 0.48 0.00 None None None None None None None

GREB1L

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 18 rs34960489,rs10654340
dbSNP
19100758 5055.73 A ATCT . 1/1 114 CODON_INSERTION MODERATE 0.99541 0.99540 0.00367 None None None None None None None
View mm170241ct 18 rs4800747
dbSNP
19079853 1130.77 A G . 1/1 33 SYNONYMOUS_CODING LOW SILENT 0.98143 0.98140 0.01227 None None None None None None None

GRP

Omim - GeneCards - NCBI
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View mm170241ct 18 rs1062557
dbSNP
56887507 125.03 C A . 1/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.70887 0.70890 0.18522 0.47 0.08 None None None None None None None

HSBP1L1

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 18 rs2298645
dbSNP
77728135 2500.77 G T . 1/1 74 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.79852 0.79850 0.23193 0.92 0.00 None None None None None None None

IMPACT

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 18 rs677688
dbSNP
22020543 2238.77 C G . 1/1 70 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.87121 0.87120 0.07358 1.00 0.00 None None None None None None None
View mm170241ct 18 rs582234
dbSNP
22020467 1633.77 T A . 1/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08526 0.08526 0.12317 0.43 0.00 None None None None None None None

KATNAL2

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 18 rs7233515
dbSNP
44585955 850.77 G A . 0/1 75 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43530 0.43530 0.38190 0.40 0.01 None None None None None None None
View mm170241ct 18 rs2289130
dbSNP
44626630 791.77 T G . 0/1 43 SYNONYMOUS_CODING LOW SILENT 0.07169 0.07169 0.05974 None None None None None None None
View mm170241ct 18 rs16954999
dbSNP
44610718 2848.77 T C . 1/1 89 None None None 0.47784 0.47780 None None None None None None None

KCNG2

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 18 rs75339189
dbSNP
77659553 1975.77 C T . 1/1 60 SYNONYMOUS_CODING LOW SILENT 0.04233 0.04233 0.07923 None None None None None None None

KCTD1

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 18 rs3755
dbSNP
24035788 1411.77 G A . 1/1 45 SYNONYMOUS_CODING LOW SILENT 0.07149 0.07149 0.13886 None None None None None None None

KDSR

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 18 rs2003149
dbSNP
61022791 4470.77 C T . 1/1 137 SYNONYMOUS_CODING LOW SILENT 0.55691 0.55690 0.39812 None None None None None None None

KLHL14

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 18 rs17851892
dbSNP
30349691 568.77 C T . 0/1 27 SYNONYMOUS_CODING LOW SILENT 0.32628 0.32630 0.29865 None None None None None None None

L3MBTL4

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 18 rs3737353
dbSNP
5956238 498.77 C T . 1/1 16 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38478 0.38480 0.35604 0.05 0.26 None None None None None None None

LAMA1

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 18 rs619106
dbSNP
7011413 476.77 G A . 0/1 45 SYNONYMOUS_CODING LOW SILENT 0.36462 0.36460 0.41149 None None None None None None None
View mm170241ct 18 rs539713
dbSNP
7017322 792.77 A G . 1/1 24 SYNONYMOUS_CODING LOW SILENT 0.54752 0.54750 0.36122 None None None None None None None
View mm170241ct 18 rs662471
dbSNP
7008591 2480.77 T C . 0/1 164 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18710 0.18710 0.28064 0.01 0.42 None None None None None None None
View mm170241ct 18 rs73938538
dbSNP
7008583 2528.77 A C . 0/1 168 SYNONYMOUS_CODING LOW SILENT 0.17173 0.17170 0.15616 None None None None None None None
View mm170241ct 18 rs684634
dbSNP
7023371 1308.77 A G . 1/1 42 SYNONYMOUS_CODING LOW SILENT 0.43730 0.43730 0.49362 None None None None None None None
View mm170241ct 18 rs625106
dbSNP
6999628 130.77 T C . 0/1 19 SYNONYMOUS_CODING LOW SILENT 0.46625 0.46630 0.47786 None None None None None None T
View mm170241ct 18 rs566655
dbSNP
7034508 1412.77 T G . 0/1 120 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15016 0.15020 0.20844 0.83 0.04 None None None None None None None
View mm170241ct 18 rs9946794
dbSNP
7012123 587.77 A G . 0/1 83 SYNONYMOUS_CODING LOW SILENT 0.42013 0.42010 0.48524 None None None None None None None
View mm170241ct 18 rs16950981
dbSNP
6992683 2142.77 T A . 0/1 191 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01897 0.01897 0.02199 0.01 0.62 None None None None None None None
View mm170241ct 18 rs12607841
dbSNP
6986227 576.77 G A . 0/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14157 0.14160 0.15255 0.10 0.01 None None None None None None None
View mm170241ct 18 rs617206
dbSNP
6985631 834.77 C T . 0/1 60 SYNONYMOUS_CODING LOW SILENT 0.55212 0.55210 0.45110 None None None None None None None
View mm170241ct 18 rs607230
dbSNP
6980523 1362.77 T C . 0/1 92 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.69369 0.69370 0.33995 0.36 0.00 None None None None None None D
View mm170241ct 18 rs621993
dbSNP
7033037 1570.77 G A . 1/1 45 SYNONYMOUS_CODING LOW SILENT 0.40655 0.40650 0.48447 None None None None None None None

LAMA3

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 18 rs867449
dbSNP
21437931 1033.77 G C . 0/1 79 SYNONYMOUS_CODING LOW SILENT 0.34365 0.34370 0.48272 None None None None None None None
View mm170241ct 18 rs200248847
dbSNP
21451584 535.77 A G . 0/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00008 0.00 None None None None None None None
View mm170241ct 18 rs9962023
dbSNP
21413869 562.77 T C . 0/1 41 SYNONYMOUS_CODING LOW SILENT 0.62440 0.62440 0.35046 None None None None None None None
View mm170241ct 18 rs12965685
dbSNP
21441717 252.77 C T . 0/1 23 SYNONYMOUS_CODING LOW SILENT 0.34066 0.34070 0.49685 None None None None None None None
View mm170241ct 18 rs1154233
dbSNP
21511089 4376.77 A G . 1/1 136 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.00 None None None None None None None
View mm170241ct 18 rs1154226
dbSNP
21481233 495.77 C G . 0/1 26 SYNONYMOUS_CODING LOW SILENT 0.16833 0.16830 0.19883 None None None None None None None