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
RS771316858 GABRA1 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Epilepsy
RS771317730 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Inborn genetic diseases
RS771317809 DDC Health Risk Pathogenic/Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS771318271 ADAMTSL4 Health Risk Pathogenic —
RS771318550 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS771318766 METTL5 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder, autosomal recessive 72
RS77131926 KCNJ11 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS771319430 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia
RS77132068 EDNRB Health Risk Conflicting classifications of pathogenicity Hirschsprung disease, susceptibility to
RS771321205 RERE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771322282 COMP Health Risk Conflicting classifications of pathogenicity —
RS771322615 RHO Health Risk Conflicting classifications of pathogenicity —
RS771325212 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS771325235 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS771325448 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Bloom syndrome
RS771325809 DCTN1 Health Risk Conflicting classifications of pathogenicity Perry syndrome, Neuronopathy
RS771326058 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS771326820 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS771328219 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS771328239 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS771328747 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS771329524 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS771329558 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, RAI1-related disorder
RS771330022 LIPA Health Risk Pathogenic Wolman disease, Cholesteryl ester storage disease
RS771332058 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS771332891 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS771332971 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS771333219 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Osteofibrous dysplasia
RS771334464 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Inborn genetic diseases
RS771334638 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental delay
RS771334693 SYNE1 Health Risk Conflicting classifications of pathogenicity —
RS771336001 TCF20 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Inborn genetic diseases
RS771336246 NMNAT1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 9
RS771336256 PHIP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771336341 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS771336748 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS771336819 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type A
RS771338296 RAI1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS771339934 SLC4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
RS771340029 SCN4A Health Risk Pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS771341361 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS771341718 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS771342044 SCN3B Health Risk Conflicting classifications of pathogenicity —
RS771342315 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS771342578 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS771343592 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS771343931 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cholestanol storage disease
RS771344425 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS771346692 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS771346977 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS771348417 CAD Health Risk Pathogenic —
RS771349646 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS77134982 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS771350745 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS771351747 TH Health Risk Pathogenic/Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS771353319 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Usher syndrome type 1
RS771353399 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS771353497 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, NTHL1-related disorder
RS771353550 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy
RS771353792 C3 Health Risk Likely pathogenic Familial Atypical Hemolytic-Uremic Syndrome, Atypical hemolytic-uremic syndrome
RS771354369 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS771355732 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS771355909 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS771357054 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS771358314 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS771358777 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS771359060 CEP152 Health Risk Conflicting classifications of pathogenicity Seckel syndrome 5, Microcephaly 9
RS771359205 PMPCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 2, Autosomal recessive spinocerebellar ataxia 2
RS771359303 EIF2AK4 Health Risk Likely pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS771360300 DIAPH1 Health Risk Pathogenic Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1
RS771361328 FRAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Fraser syndrome 1
RS771361438 DNAAF3 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS771361493 SUFU Health Risk Likely pathogenic Gorlin syndrome, Medulloblastoma
RS771362238 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Monogenic diabetes
RS771363187 CD40 Health Risk Conflicting classifications of pathogenicity —
RS771364038 VRK1 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1A, Neuronopathy
RS771364268 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, AGRN-related disorder
RS771364943 ZCCHC8 Health Risk Conflicting classifications of pathogenicity —
RS771365308 CLCN7 Health Risk Conflicting classifications of pathogenicity —
RS771365929 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS771368440 CYFIP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771369373 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS771370664 MSH3 Health Risk Pathogenic —
RS771371885 GMNN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771371997 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Menke-Hennekam syndrome 1
RS771373235 DYNLT2B Health Risk Pathogenic Short-rib thoracic dysplasia 17 with or without polydactyly, Short-rib thoracic dysplasia 17 with or without polydactyly
RS771373457 NPR2 Health Risk Pathogenic Epilepsy, familial focal
RS771375243 AGK Health Risk Likely pathogenic Sengers syndrome, Sengers syndrome
RS771376636 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS771378213 C4B Health Risk Likely pathogenic Complement component 4b deficiency, Complement component 4b deficiency
RS771378383 KMT2E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771378965 SLIT2 Health Risk Conflicting classifications of pathogenicity —
RS771379232 MTHFS Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, epilepsy
RS771379536 P2RY12 Health Risk Conflicting classifications of pathogenicity —
RS771380575 TMEM147 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with facial dysmorphism, absent language
RS771380823 SUFU Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Gorlin syndrome
RS771381056 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS771382737 COL9A1 Health Risk Pathogenic/Likely pathogenic —
RS771382752 PKD1 Health Risk Conflicting classifications of pathogenicity PKD1-related disorder, PKD1-related disorder
RS771383153 PHOX2B Health Risk Pathogenic/Likely pathogenic Central hypoventilation syndrome, congenital
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