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
RS773500008 TNXB Health Risk Likely pathogenic Ehlers-Danlos syndrome, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS773500082 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS773500215 DOCK8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Combined immunodeficiency due to DOCK8 deficiency
RS773500471 NEXN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 20
RS773501392 COL27A1 Health Risk Pathogenic Steel syndrome, Steel syndrome
RS773504995 TUBGCP6 Health Risk Conflicting classifications of pathogenicity —
RS773505114 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773505261 FBN2 Health Risk Conflicting classifications of pathogenicity High myopia, Congenital contractural arachnodactyly
RS773505947 LAMA1 Health Risk Conflicting classifications of pathogenicity Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Inborn genetic diseases
RS773506092 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Malignant tumor of breast
RS773506987 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS773507064 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS773507163 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS773508261 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS773508976 OPHN1 Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome
RS773509289 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS773509699 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS773510214 GUSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7, GUSB-related disorder
RS773513015 TNNI3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS773513360 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS773513402 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS773514258 SPINK5 Health Risk Pathogenic Netherton syndrome, Ichthyosis linearis circumflexa
RS773515249 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Benign familial hematuria
RS773515722 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS773515773 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS773516672 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS773516968 CABP4 Health Risk Conflicting classifications of pathogenicity Aland island eye disease, Cone-rod dystrophy
RS773517202 TTC29 Health Risk Likely pathogenic —
RS773518308 JMJD1C Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early myoclonic encephalopathy
RS77351928 FKRP Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS773519800 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS773520401 SIL1 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, SIL1-related disorder
RS773521620 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS773521685 ENG Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS773521793 AICDA Health Risk Likely pathogenic Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
RS773522765 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS773522773 PSEN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1V, Alzheimer disease 4
RS773523178 LRP5 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS773523380 PRDM5 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS773523852 ADAMTS18 Health Risk Likely pathogenic —
RS773524364 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS773525033 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS773525527 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS773525538 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype
RS773526027 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS773526768 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773526895 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome
RS773527284 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, 11p partial monosomy syndrome
RS773527337 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS773527738 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS773527879 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS773528125 GJB2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Ear malformation
RS773528195 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS773530345 DLL1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
RS773532854 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS773533016 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS773533216 LIPA Health Risk Likely pathogenic Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency
RS773534683 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, NIPBL-related disorder
RS773536890 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS773537875 MTTP Health Risk Conflicting classifications of pathogenicity Abetalipoproteinaemia, Abetalipoproteinaemia
RS773538041 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS773538148 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS773538545 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Alagille syndrome due to a JAG1 point mutation
RS773538942 CYP27B1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773539041 NOTCH3 Health Risk Pathogenic NOTCH3-related disorder, Cerebral arteriopathy
RS773539595 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS773539640 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinal dystrophy
RS773539946 EXT1 Health Risk Conflicting classifications of pathogenicity Multiple congenital exostosis, Inborn genetic diseases
RS773540275 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS773541137 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS773541890 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, 6 conditions
RS773542514 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Myopathy
RS773543026 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome
RS773543072 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS773543112 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS773543257 IGHMBP2 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS773543852 OTOF Health Risk Pathogenic —
RS773545020 SCN1A Health Risk Pathogenic Focal-onset seizure, Focal-onset seizure
RS773545588 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS773545852 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS773546064 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS773546195 TECTA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773546205 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7
RS773546767 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS773547480 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS773547765 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS773548788 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS773549641 POLR1A Health Risk Conflicting classifications of pathogenicity —
RS773549874 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS773551361 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, AHI1-related disorder
RS773551819 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, MYO15A-related disorder
RS773552397 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS773553166 LAMA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773553177 ASPM Health Risk Pathogenic —
RS773553186 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS773553639 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome
RS773554421 SGCB Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS773554464 SH3TC2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS773554624 WFS1 Health Risk Pathogenic/Likely pathogenic —
RS773555071 SETBP1 Health Risk Conflicting classifications of pathogenicity —
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