SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS774312110 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS774312182 STRC Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 16, STRC-related disorder
RS77431272 A2ML1 Health Risk Conflicting classifications of pathogenicity A2ML1-related disorder, A2ML1-related disorder
RS774313535 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS774316050 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS774316240 HECW2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Neurodevelopmental disorder with hypotonia
RS774316525 CCDC39 Health Risk Pathogenic —
RS774318019 KIF14 Health Risk Pathogenic/Likely pathogenic Microcephaly 20, primary
RS774318611 UBA5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 44
RS774319188 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS774319202 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS774322340 TMEM127 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS774323175 TSEN2 Health Risk Pathogenic/Likely pathogenic Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 2B
RS774323189 ASPA Health Risk Pathogenic/Likely pathogenic Spongy degeneration of central nervous system, Canavan Disease
RS774323736 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Cardiomyopathy
RS774323865 IDH2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, D-2-hydroxyglutaric aciduria 2
RS774324385 SOX10 Health Risk Conflicting classifications of pathogenicity PCWH syndrome, Waardenburg syndrome
RS774324419 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS774324906 CRPPA Health Risk Conflicting classifications of pathogenicity —
RS774325742 YARS2 Health Risk Conflicting classifications of pathogenicity Myopathy, lactic acidosis
RS774328147 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS774329591 ERCC2 Health Risk Conflicting classifications of pathogenicity —
RS774330485 WFS1 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS774331771 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS774331779 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome
RS774332349 COL7A1 Health Risk Pathogenic —
RS774332906 ITGB3 Health Risk Likely pathogenic Bleeding disorder, platelet-type
RS774332996 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS774333145 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS774333332 ALOX12B Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS774333721 MYOZ2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS774334667 ATM Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Ataxia-telangiectasia syndrome
RS774334908 MYH9 Health Risk Conflicting classifications of pathogenicity —
RS774336493 RHO Health Risk Likely pathogenic —
RS774336593 SCN10A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS774336703 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS774337037 DIAPH1 Health Risk Likely pathogenic —
RS774338309 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
RS774338352 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS774338373 ASPM Health Risk Pathogenic Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS774338461 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS774339063 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS774339589 SLFN14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774342727 LRP5 Health Risk Likely pathogenic —
RS774343099 ITGB4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774344690 SAMD9 Health Risk Conflicting classifications of pathogenicity —
RS774346160 NUP107 Health Risk Likely pathogenic Nephrotic syndrome, type 11
RS774347658 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS774347808 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 2B, Multiple endocrine neoplasia type 2A
RS774348345 NRL Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS774349262 POMGNT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS774349752 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS774350463 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS774350715 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS774351619 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS774351913 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS774352286 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS774352844 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS774353111 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS774353403 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS774353448 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Ovarian serous cystadenocarcinoma
RS774353684 PHF6 Health Risk Conflicting classifications of pathogenicity Borjeson-Forssman-Lehmann syndrome, Inborn genetic diseases
RS774353934 COQ8A Health Risk Pathogenic —
RS774353983 SKIC3 Health Risk Pathogenic —
RS774354351 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS774354424 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774354874 GBE1 Health Risk Conflicting classifications of pathogenicity Adult polyglucosan body disease, Glycogen storage disease
RS774354969 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP4-related disorder
RS774354974 TBC1D24 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS774355338 SQSTM1 Health Risk Conflicting classifications of pathogenicity Paget disease of bone 2, early-onset
RS774356384 SLX4 Health Risk Likely pathogenic Fanconi anemia, Uterine corpus endometrial carcinoma
RS774356396 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS774356443 PTPN11 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 1, RASopathy
RS774356639 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS774356907 COG1 Health Risk Conflicting classifications of pathogenicity COG1 congenital disorder of glycosylation, Inborn genetic diseases
RS774357106 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS774357141 BMPR1A Health Risk Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS774357609 UBE2T Health Risk Pathogenic Fanconi anemia complementation group T, Fanconi anemia complementation group T
RS774357869 RORC Health Risk Pathogenic Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
RS774358117 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS774358799 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS774358847 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS774358971 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS774359312 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS774360489 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS774361030 PSMA3 Health Risk Conflicting classifications of pathogenicity —
RS774361880 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS774362265 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS774362306 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS774362519 FBP1 Health Risk Pathogenic/Likely pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS774362698 KIAA1549 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS774362740 FLG Health Risk Pathogenic/Likely pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS774363396 SDR9C7 Health Risk Pathogenic Ichthyosis, congenital
RS774363593 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS774366025 OTOA Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 22
RS774366079 COX15 Health Risk Pathogenic —
RS774368488 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Bloom syndrome
RS774370086 C7 Health Risk Pathogenic Complement component 7 deficiency, Complement component 7 deficiency
RS774371494 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS774373985 ACTB Health Risk Conflicting classifications of pathogenicity Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
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