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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

AC012123.1

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 rs200605696
dbSNP
30352057 767.73 GC... G . 0/1 22 FRAME_SHIFT HIGH None None None None None None None

ADCYAP1

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 rs8192597
dbSNP
907675 615.77 G A . 0/1 34 SYNONYMOUS_CODING LOW SILENT 0.70208 0.70210 0.34802 None None None None None None None

ADNP2

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 rs3744878
dbSNP
77895192 543.77 G A . 0/1 40 SYNONYMOUS_CODING LOW SILENT 0.10963 0.10960 0.14793 None None None None None None None
View mm170241ct 18 rs1064059
dbSNP
77893683 2650.77 A G . 0/1 226 SYNONYMOUS_CODING LOW SILENT 0.12480 0.12480 0.18192 None None None None None None None
View mm170241ct 18 rs1064058
dbSNP
77891039 1498.77 T A . 0/1 94 SYNONYMOUS_CODING LOW SILENT 0.12500 0.12500 0.18176 None None None None None None None
View mm170241ct 18 rs3744877
dbSNP
77894844 1120.77 G A . 0/1 68 SYNONYMOUS_CODING LOW SILENT 0.41873 0.41870 0.38413 None None None None None None None

AFG3L2

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 rs11553521
dbSNP
12348285 4310.77 T C . 1/1 119 SYNONYMOUS_CODING LOW SILENT 0.70986 0.70990 0.22074 None None None None None None None
View mm170241ct 18 rs11080572
dbSNP
12351342 1375.77 C T . 1/1 40 SYNONYMOUS_CODING LOW SILENT 0.62320 0.62320 0.31386 None None None None None None None

ALPK2

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 rs3809976
dbSNP
56204250 1827.77 A C . 0/1 132 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67213 0.67210 0.31678 0.53 0.28 None None None None None None None
View mm170241ct 18 rs9956630
dbSNP
56247567 1819.77 A G . 0/1 160 SYNONYMOUS_CODING LOW SILENT 0.48283 0.48280 0.45052 None None None None None None None
View mm170241ct 18 rs55656447
dbSNP
56202470 1952.77 G A . 0/1 132 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00519 0.00519 0.01007 0.06 0.44 None None None None None None None
View mm170241ct 18 rs7234999
dbSNP
56202120 1500.77 G A . 0/1 138 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07208 0.07208 0.11349 1.00 0.18 None None None None None None None
View mm170241ct 18 rs33910491
dbSNP
56202683 1628.77 T C . 0/1 121 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06250 0.06250 0.10049 0.13 0.01 None None None None None None None
View mm170241ct 18 rs7240355
dbSNP
56202394 1076.77 C T . 0/1 86 SYNONYMOUS_CODING LOW SILENT 0.07208 0.07208 0.11233 None None None None None None None
View mm170241ct 18 rs3826594
dbSNP
56202982 828.77 A T . 0/1 54 SYNONYMOUS_CODING LOW SILENT 0.67292 0.67290 0.31632 None None None None None None None
View mm170241ct 18 rs141586980
dbSNP
56203252 1860.73 AAAG A . 0/1 108 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.07208 0.07208 0.11480 None None None None None None None
View mm170241ct 18 rs7240666
dbSNP
56149099 3165.77 T C . 1/1 91 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.92153 0.92150 0.16754 1.00 0.00 None None None None None None None
View mm170241ct 18 rs3809980
dbSNP
56203411 969.77 G C . 0/1 77 SYNONYMOUS_CODING LOW SILENT 0.67153 0.67150 0.31678 None None None None None None None
View mm170241ct 18 rs3809979
dbSNP
56203447 809.77 A G . 0/1 62 SYNONYMOUS_CODING LOW SILENT 0.67173 0.67170 0.31678 None None None None None None None
View mm170241ct 18 rs3809978
dbSNP
56203891 834.77 G T . 0/1 57 SYNONYMOUS_CODING LOW SILENT 0.67173 0.67170 0.31708 None None None None None None None
View mm170241ct 18 rs3809977
dbSNP
56203898 690.77 T G . 0/1 52 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67173 0.67170 0.31747 0.05 0.02 None None None None None None None
View mm170241ct 18 rs9958735
dbSNP
56247180 978.77 T C . 0/1 88 SYNONYMOUS_CODING LOW SILENT 0.51018 0.51020 0.47932 None None None None None None None
View mm170241ct 18 rs12963422
dbSNP
56204644 1383.77 T G . 1/1 40 SYNONYMOUS_CODING LOW SILENT 0.33746 0.33750 0.28741 None None None None None None None
View mm170241ct 18 rs3826593
dbSNP
56204747 2421.77 G A . 1/1 67 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.79852 0.79850 0.15624 0.97 0.00 None None None None None None None
View mm170241ct 18 rs12606191
dbSNP
56246442 1720.77 T C . 0/1 106 SYNONYMOUS_CODING LOW SILENT 0.37340 0.37340 0.29586 None None None None None None None
View mm170241ct 18 rs6566987
dbSNP
56279025 632.77 T G . 1/1 24 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.94070 0.94070 0.15807 1.00 0.00 None None None None None None None
View mm170241ct 18 rs9944810
dbSNP
56247600 1917.77 C A . 0/1 182 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.48283 0.48280 0.44919 1.00 0.00 None None None None None None None
View mm170241ct 18 rs10469212
dbSNP
56202418 3472.77 T C . 1/1 97 SYNONYMOUS_CODING LOW SILENT 0.93051 0.93050 0.06874 None None None None None None None

ANKRD12

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 rs4798791
dbSNP
9255982 3922.77 A G . 0/1 262 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.61342 0.61340 0.45472 0.07 1.00 None None None None None None None

ANKRD30B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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 rs4090319
dbSNP
14848820 3825.77 C T . 0/1 310 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40076 0.40080 1.00 0.00 None None None None None None None
View mm170241ct 18 rs9676225
dbSNP
14851756 1401.77 G A . 0/1 243 SYNONYMOUS_CODING LOW SILENT 0.52855 0.52860 None None None None None None None
View mm170241ct 18 rs9675365
dbSNP
14779969 2217.77 C G . 0/1 173 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46566 0.46570 0.29 0.55 None None None None None None None
View mm170241ct 18 rs66708488,rs3126404
dbSNP
14850375 8457.77 G A . 0/1 644 SYNONYMOUS_CODING LOW SILENT 0.47244 0.47240 None None None None None None None
View mm170241ct 18 rs12386087
dbSNP
14852335 20888.77 C A . 1/1 720 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96825 0.96830 0.37 0.00 None None None None None None None
View mm170241ct 18 rs28555630
dbSNP
14848821 4223.77 G A . 0/1 310 SYNONYMOUS_CODING LOW SILENT 0.46965 0.46960 None None None None None None None
View mm170241ct 18 rs12457503
dbSNP
14752957 1861.77 G A . 0/1 137 SYNONYMOUS_CODING LOW SILENT 0.51997 0.52000 0.48489 None None None None None None None

ANKRD62

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 rs4519391
dbSNP
12115509 469.77 G A . 0/1 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.52736 0.52740 0.01 0.64 None None None None None None None
View mm170241ct 18 rs6505715
dbSNP
12099654 2219.77 T C . 0/1 202 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.52436 0.52440 0.42 0.00 None None None None None None None
View mm170241ct 18 rs7243248
dbSNP
12125657 6911.77 G A . 0/1 462 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.54653 0.54650 1.00 0.00 None None None None None None None
View mm170241ct 18 rs11873244
dbSNP
12124152 7722.77 C G . 0/1 544 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23542 0.23540 1.00 0.00 None None None None None None None
View mm170241ct 18 rs1986751
dbSNP
12096249 2912.77 G T . 0/1 210 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.52456 0.52460 0.08 0.16 None None None None None None None

AP005482.1

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 rs1062235
dbSNP
12658600 1256.77 A G . 1/1 36 SYNONYMOUS_CODING LOW SILENT 0.29952 0.29950 None None None None None None None

AQP4

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 rs35248760
dbSNP
24442392 1178.77 C A . 0/1 87 SYNONYMOUS_CODING LOW SILENT 0.04413 0.04413 0.09011 None None None None None None None

ARHGAP28

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 rs1116757
dbSNP
6890434 1117.77 A G . 0/1 100 SYNONYMOUS_CODING LOW SILENT 0.56310 0.56310 0.43395 None None None None None None None
View mm170241ct 18 rs1056408
dbSNP
6912143 4585.77 A C . 1/1 122 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.72923 0.72920 0.16408 1.00 0.00 None None None None None None None
View mm170241ct 18 rs4239328
dbSNP
6889973 1955.77 A G . 0/1 173 SYNONYMOUS_CODING LOW SILENT 0.56090 0.56090 0.42934 None None None None None None None

ASXL3

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 rs7232237
dbSNP
31324934 2458.77 A G . 1/1 74 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67911 0.67910 0.41347 0.00 None None None None None None None
View mm170241ct 18 rs2282632
dbSNP
31320229 9296.77 A G . 1/1 268 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.70328 0.70330 0.39929 0.01 None None None None None None None

ATP5A1

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 rs56181324
dbSNP
43678024 136.77 G A . 0/1 8 MOTIF[MA0095.1:Yy1] LOW 0.23882 0.23880 None None None None None None None
View mm170241ct 18 rs3753069
dbSNP
43678035 232.8 T C . 1/1 7 None None None 0.55052 0.55050 0.00 None None None None None None None

ATP8B1

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 rs319438
dbSNP
55364852 1182.77 A G . 1/1 40 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.99461 0.99460 0.00692 None None None None None None None
View mm170241ct 18 rs319443
dbSNP
55362532 5208.77 T G . 1/1 164 SYNONYMOUS_CODING LOW SILENT 0.99261 0.99260 0.01031 None None None None None None None
View mm170241ct 18 rs222581
dbSNP
55317676 4353.77 C T . 1/1 131 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99980 0.99980 0.00123 1.00 0.00 None None None None None None None

ATP9B

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 rs3760541
dbSNP
77067000 2550.77 T G . 0/1 247 SYNONYMOUS_CODING LOW SILENT 0.40336 0.40340 0.42219 None None None None None None None
View mm170241ct 18 rs4078115
dbSNP
76829525 26.78 A G LowQual 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.31430 0.31430 0.17122 0.23 0.00 None None None None None None None

BCL2

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 rs1801018
dbSNP
60985879 1642.77 T C . 0/1 133 SYNONYMOUS_CODING LOW SILENT 0.24321 0.24320 0.31045 None None None None None None None

BOD1L2

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 rs11151997
dbSNP
54815025 506.77 G T . 0/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.56809 0.56810 0.17 0.26 None None None None None None None

C18orf25

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 rs34068795,rs397790301
dbSNP
43833701 2691.73 T TCTG . 0/1 125 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE 0.69269 0.69270 None None None None None None None

C18orf42

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 rs1395063
dbSNP
5145609 699.77 G T . 0/1 46 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19169 0.19170 0.36 0.00 None None None None None None None

C18orf54

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 rs1657904
dbSNP
51887123 1665.77 C T . 0/1 105 SYNONYMOUS_CODING LOW SILENT 0.06090 0.06090 0.06974 None None None None None None None
View mm170241ct 18 rs1657907
dbSNP
51888169 2339.77 G C . 0/1 180 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06070 0.06070 0.06966 0.13 0.29 None None None None None None None
View mm170241ct 18 rs79359715
dbSNP
51888173 2293.77 G A . 0/1 176 SYNONYMOUS_CODING LOW SILENT 0.02216 0.02216 0.04313 None None None None None None None

C18orf63

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 rs12606060
dbSNP
72021717 6431.77 T C . 1/1 187 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99820 0.99820 1.00 0.00 None None None None None None None
View mm170241ct 18 rs79548281
dbSNP
72009544 975.77 C T . 0/1 57 SYNONYMOUS_CODING LOW SILENT 0.06869 0.06869 None None None None None None None

C18orf8

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 rs1367083
dbSNP
21100240 691.77 C T . 0/1 39 SYNONYMOUS_CODING LOW SILENT 0.61941 0.61940 0.49785 None None None None None None None
View mm170241ct 18 rs1788825
dbSNP
21109250 501.77 T C . 0/1 44 SYNONYMOUS_CODING LOW SILENT 0.83047 0.83050 0.26372 None None None None None None None

CABYR

Omim - GeneCards - NCBI
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View mm170241ct 18 rs1049684
dbSNP
21739725 1380.77 T C . 0/1 91 None None None 0.47125 0.47120 0.41788 None None None None None None None
View mm170241ct 18 rs1049683
dbSNP
21736933 1137.77 T G . 1/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85324 0.85320 0.15538 1.00 0.00 None None None None None None None

CBLN2

Omim - GeneCards - NCBI
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View mm170241ct 18 rs7237888
dbSNP
70209321 739.77 C A . 1/1 22 SYNONYMOUS_CODING LOW SILENT 0.56310 0.56310 0.24141 None None None None None None None

CCDC102B

Omim - GeneCards - NCBI
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View mm170241ct 18 rs2187094
dbSNP
66513615 2169.77 A G . 0/1 207 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.36781 0.36780 0.29602 0.07 0.16 None None None None None None None
View mm170241ct 18 rs637051
dbSNP
66504351 1944.77 G A . 0/1 139 SYNONYMOUS_CODING LOW SILENT 0.20627 0.20630 0.34664 None None None None None None None
View mm170241ct 18 rs572020
dbSNP
66504459 4344.77 A T . 1/1 116 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.92093 0.92090 0.07229 0.55 0.00 None None None None None None None
View mm170241ct 18 rs485613
dbSNP
66504093 2891.77 A C . 1/1 87 SYNONYMOUS_CODING LOW SILENT 0.92093 0.92090 0.07538 None None None None None None None

CCDC178

Omim - GeneCards - NCBI
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View mm170241ct 18 rs466113
dbSNP
30804756 2470.77 C T . 1/1 70 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99541 0.99540 0.00477 0.01 0.03 None None None None None None None
View mm170241ct 18 rs9965081
dbSNP
30846895 7029.77 A T . 1/1 202 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.93251 0.93250 0.09595 0.98 0.00 None None None None None None None

CD226

Omim - GeneCards - NCBI
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View mm170241ct 18 rs72481819
dbSNP
67534632 2021.77 C T . 0/1 130 SYNONYMOUS_CODING LOW SILENT 0.02196 0.02196 0.04905 None None None None None None None
View mm170241ct 18 rs763361
dbSNP
67531642 11531.77 T C . 1/1 346 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46945 0.46940 0.45210 0.40 0.01 None None None None None None None

CDH19

Omim - GeneCards - NCBI
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View mm170241ct 18 rs72954429
dbSNP
64211251 2511.77 C T . 1/1 72 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08247 0.08247 0.10449 0.15 0.01 None None None None None None None

CDH2

Omim - GeneCards - NCBI
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View mm170241ct 18 rs1944294
dbSNP
25616451 2729.77 A T . 0/1 196 None None None 0.20587 0.20590 0.15242 None None None None None None None
View mm170241ct 18 rs1041985
dbSNP
25543387 336.77 G A . 0/1 24 SYNONYMOUS_CODING LOW SILENT 0.32748 0.32750 0.26718 None None None None None None None
View mm170241ct 18 rs1220144
dbSNP
25565082 3210.76 A G . 1/1 98 SYNONYMOUS_CODING LOW SILENT 0.99002 0.99000 0.01000 None None None None None None None
View mm170241ct 18 rs1628684
dbSNP
25570228 6204.77 G C . 1/1 190 SYNONYMOUS_CODING LOW SILENT 0.99361 0.99360 0.00638 None None None None None None None

CDH20

Omim - GeneCards - NCBI
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View mm170241ct 18 rs12964819
dbSNP
59166541 610.77 C T . 0/1 36 SYNONYMOUS_CODING LOW SILENT 0.62220 0.62220 0.34100 None None None None None None None
View mm170241ct 18 rs595093
dbSNP
59170304 1734.77 C G . 1/1 52 SYNONYMOUS_CODING LOW SILENT 0.99581 0.99580 0.00461 None None None None None None None

CDH7

Omim - GeneCards - NCBI
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View mm170241ct 18 rs8097752
dbSNP
63489378 7429.77 C T . 1/1 213 SYNONYMOUS_CODING LOW SILENT 0.85284 0.85280 0.13917 None None None None None None T|.|T
View mm170241ct 18 rs2291343
dbSNP
63530016 1786.77 A G . 0/1 105 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62959 0.62960 0.41050 0.58 0.05 None None None None None None None
View mm170241ct 18 rs2306675
dbSNP
63511176 1027.77 T C . 0/1 95 SYNONYMOUS_CODING LOW SILENT 0.18610 0.18610 0.28987 None None None None None None None

CELF4

Omim - GeneCards - NCBI
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View mm170241ct 18 rs1443638
dbSNP
34850846 185.77 G A . 0/1 12 SYNONYMOUS_CODING LOW SILENT 0.21546 0.21550 0.30524 None None None None None None None

CEP192

Omim - GeneCards - NCBI
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View mm170241ct 18 rs4499304
dbSNP
13001512 422.77 G C . 0/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43071 0.43070 0.61 0.00 None None None None None None .|T
View mm170241ct 18 rs11080618
dbSNP
13001523 375.77 G A . 0/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.27416 0.27420 0.03 0.00 None None None None None None None
View mm170241ct 18 rs6505780
dbSNP
13069782 1807.77 C T . 0/1 134 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.77017 0.77020 0.29148 1.00 0.00 None None None None None None None
View mm170241ct 18 rs1786263
dbSNP
13116432 2018.77 G T . 0/1 127 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.77556 0.77560 0.28087 1.00 0.00 None None None None None None None
View mm170241ct 18 rs578208
dbSNP
13068132 842.77 T C . 0/1 61 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.74720 0.74720 0.31624 1.00 0.00 None None None None None None None
View mm170241ct 18 rs2282541
dbSNP
13056333 616.77 C T . 0/1 60 SYNONYMOUS_CODING LOW SILENT 0.24621 0.24620 0.29386 None None None None None None None
View mm170241ct 18 rs474337
dbSNP
13095609 667.77 T C . 0/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.76997 0.77000 0.29133 0.07 0.00 None None None None None None None

CHST9

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 . 24722740 5565.77 G A . 0/1 362 STOP_GAINED HIGH NONSENSE None None None None None None None

CIDEA

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 rs71369912
dbSNP
12254562 4702.73 C CC... . 1/1 71 None None None 0.38459 0.38460 None None None None None None None

CNDP1

Omim - GeneCards - NCBI
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View mm170241ct 18 rs4263028
dbSNP
72228124 2698.77 A G . 1/1 79 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98163 0.98160 0.01745 1.00 0.00 None None None None None None None
View mm170241ct 18 rs12960862
dbSNP
72234635 1375.77 C T . 1/1 40 SYNONYMOUS_CODING LOW SILENT 0.45447 0.45450 0.43449 None None None None None None None

COLEC12

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 rs2305026
dbSNP
334758 124.03 T C . 1/1 5 SYNONYMOUS_CODING LOW SILENT 0.88498 0.88500 0.14363 None None None None None None None