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
RS1191455921 LMX1B Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, Nail-patella syndrome
RS1191459372 ALDH1A3 Health Risk Likely pathogenic —
RS1191473722 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1191479533 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS1191496583 RPE65 Health Risk Likely pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS11915053 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP3-related Meckel-like syndrome
RS1191510461 WFS1 Health Risk Pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS1191512072 OTOGL Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS1191525733 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1191556044 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS1191587211 CPS1 Health Risk Likely pathogenic Pulmonary hypertension, neonatal
RS1191597081 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1191610314 MYO18B Health Risk Pathogenic/Likely pathogenic Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS1191614292 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1191615331 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS1191616106 ITGB4 Health Risk Pathogenic Epidermolysis bullosa simplex 1C, localized
RS1191618494 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1191629465 SYNE1 Health Risk Pathogenic —
RS1191639138 KCNB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 26
RS1191652273 ABCC8 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus
RS1191668273 ANO5 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS1191668967 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1191677538 F11 Health Risk Pathogenic —
RS1191726071 CLCNKB Health Risk Pathogenic BARTTER SYNDROME, TYPE 4B
RS1191733811 PHKB Health Risk Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS1191737604 FKRP Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS1191752014 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1191762345 DLL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1191773234 MGP Health Risk Likely pathogenic —
RS1191816747 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1191822017 GMPPB Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS1191857860 GNE Health Risk Pathogenic/Likely pathogenic Sialuria, GNE myopathy
RS1191868168 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1191878631 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1191883044 IFNAR1 Health Risk Pathogenic —
RS1191885727 TERT Health Risk Pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1191893961 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Orofaciodigital syndrome I
RS1191912908 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young
RS1191931914 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1191939323 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS1191969326 SLC5A7 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS1191977862 G6PD Health Risk Likely pathogenic Anemia, nonspherocytic hemolytic
RS1191985078 CDK13 Health Risk Conflicting classifications of pathogenicity —
RS1191997234 HPGD Health Risk Pathogenic —
RS1191997383 FIG4 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS1192019733 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1192028272 SCAPER Health Risk Likely pathogenic Intellectual developmental disorder and retinitis pigmentosa, IDDRP
RS1192030415 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1192053295 TTLL5 Health Risk Likely pathogenic —
RS1192054216 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1192056840 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal recessive form
RS1192068092 TTN Health Risk Conflicting classifications of pathogenicity —
RS1192104600 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1192112844 CEP290 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1192140084 COL4A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1192140369 SLC26A1 Health Risk Pathogenic Nephrolithiasis, calcium oxalate
RS1192141992 HFE Health Risk Likely pathogenic Hemochromatosis type 1, Nonpapillary renal cell carcinoma
RS1192158230 NTHL1 Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome
RS1192248368 NHS Health Risk Conflicting classifications of pathogenicity Nance-Horan syndrome, Inborn genetic diseases
RS1192250435 OTOG Health Risk Pathogenic —
RS1192258846 EIF2AK3 Health Risk Likely pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS1192258898 NR2E3 Health Risk Conflicting classifications of pathogenicity Goldmann-Favre syndrome, Retinal dystrophy
RS1192263020 HNF4A Health Risk Conflicting classifications of pathogenicity Familial hyperinsulinism, Maturity-onset diabetes of the young type 1
RS1192287561 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS1192315307 SAMHD1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi Goutieres syndrome
RS1192320601 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Inborn genetic diseases
RS1192353246 HADHB Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS1192363193 USH2A Health Risk Pathogenic —
RS1192364650 GPD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1192367520 KPTN Health Risk Likely pathogenic Macrocephaly-developmental delay syndrome, Macrocephaly-developmental delay syndrome
RS1192374789 TP63 Health Risk Likely pathogenic TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS1192375765 DOCK6 Health Risk Pathogenic Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS1192379474 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1192394824 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1192396248 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS1192398258 CEP78 Health Risk Pathogenic —
RS1192400891 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1192416464 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1192420369 NHS Health Risk Conflicting classifications of pathogenicity Nance-Horan syndrome, Nonpapillary renal cell carcinoma
RS1192427975 DMD Health Risk Pathogenic —
RS1192432123 MRPS25 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 50, Combined oxidative phosphorylation deficiency 50
RS1192447986 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1192451883 INTS8 Health Risk Likely pathogenic Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
RS1192453905 DMXL2 Health Risk Pathogenic —
RS1192458685 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy
RS1192490528 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1192512411 MTOR Health Risk Conflicting classifications of pathogenicity —
RS1192520130 NCF2 Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS1192539262 USH2A Health Risk Pathogenic —
RS1192554889 LRBA Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1192584069 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1192619329 AK2 Health Risk Pathogenic Reticular dysgenesis, Reticular dysgenesis
RS1192624503 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1192627743 ARV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1192632165 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1192636711 MGME1 Health Risk Pathogenic —
RS1192674860 SLC4A1 Health Risk Likely pathogenic —
RS1192702664 TPP1 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS1192724266 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1192728612 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
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