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
RS780142044 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
RS780143881 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS780144498 NDUFB9 Health Risk Conflicting classifications of pathogenicity —
RS780145654 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS780148172 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS780148543 NPHP3 Health Risk Pathogenic Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1
RS78014899 RET Health Risk Pathogenic Familial medullary thyroid carcinoma, Multiple endocrine neoplasia
RS780148992 POLR3B Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS780150093 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
RS780150752 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS780150866 BMPR2 Health Risk Conflicting classifications of pathogenicity Primary pulmonary hypertension, Inborn genetic diseases
RS78015149 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS780152095 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS780152442 NIPBL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cornelia de Lange syndrome 1
RS780154697 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS780155240 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS780155641 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Familial hemiplegic migraine
RS780156287 TMC1 Health Risk Likely pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS780156428 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS780156504 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS780157041 SLC19A3 Health Risk Likely pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS780157180 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS780157705 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS780157776 RAI1 Health Risk Conflicting classifications of pathogenicity Smith-Magenis syndrome, Inborn genetic diseases
RS780157871 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS780158388 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS780158690 RNF213 Health Risk Conflicting classifications of pathogenicity —
RS780160887 COL4A4 Health Risk Likely pathogenic —
RS780161032 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS780161503 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 1
RS780161540 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, See cases
RS780161956 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS780163791 AHI1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Joubert syndrome 1
RS780164400 EVC Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS780164701 POC1A Health Risk Pathogenic Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
RS780164828 ZNF711 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780164928 TMEM230 Health Risk Conflicting classifications of pathogenicity —
RS780165350 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780165589 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS780165694 IDUA Health Risk Conflicting classifications of pathogenicity Hurler syndrome, Mucopolysaccharidosis type 1
RS780165789 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS780166871 ERCC4 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group F
RS780167298 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS780168150 CIB2 Health Risk Pathogenic/Likely pathogenic Hearing impairment, Autosomal recessive nonsyndromic hearing loss 48
RS780169168 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS780169747 NOTCH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780170125 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Congenital sensorineural hearing impairment
RS780170292 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS780171086 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS780171125 SLC4A11 Health Risk Conflicting classifications of pathogenicity —
RS780171319 ROBO2 Health Risk Conflicting classifications of pathogenicity Vesicoureteral reflux 2, Vesicoureteral reflux 2
RS780171388 IFNAR2 Health Risk Conflicting classifications of pathogenicity IFNAR2-related disorder, IFNAR2-related disorder
RS780172151 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS780172365 MYLK3 Health Risk Conflicting classifications of pathogenicity —
RS780172775 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780173554 HGD Health Risk Pathogenic/Likely pathogenic Alkaptonuria, Alkaptonuria
RS780173849 ITK Health Risk Conflicting classifications of pathogenicity Lymphoproliferative syndrome 1, Autoinflammatory syndrome
RS780175030 CHRNB2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 3, Autosomal dominant nocturnal frontal lobe epilepsy
RS780175755 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS780175800 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS780176625 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780176764 RECQL4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Baller-Gerold syndrome
RS780177888 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS780178101 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS780178406 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS780178572 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS780178733 HSD17B3 Health Risk Pathogenic/Likely pathogenic Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
RS780179113 OBSL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780179136 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS780180385 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS780180737 ADGRV1 Health Risk Conflicting classifications of pathogenicity ADGRV1-related disorder, ADGRV1-related disorder
RS780180871 LAMA3 Health Risk Pathogenic —
RS780181944 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS780182068 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS780183200 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3
RS780183716 KIF2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780184251 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS780186346 EPHB4 Health Risk Pathogenic EPHB4-related disorder, EPHB4-related disorder
RS780186596 ATP8B1 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS780187989 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS780189288 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Inborn genetic diseases
RS780189423 BAZ2B Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS780190318 CC2D2A Health Risk Pathogenic/Likely pathogenic Joubert syndrome 9, Meckel-Gruber syndrome
RS780192694 ANO10 Health Risk Conflicting classifications of pathogenicity —
RS780193533 PCSK9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS780193588 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS780195851 CPT1C Health Risk Pathogenic Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73
RS780195897 PPM1D Health Risk Likely pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
RS780197880 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Congenital myopathy with internal nuclei and atypical cores
RS780197970 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS780198002 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS780199021 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS780200136 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary leiomyomatosis and renal cell cancer
RS780200320 NDUFAF1 Health Risk Conflicting classifications of pathogenicity —
RS780200722 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS780201405 SLC25A15 Health Risk Pathogenic/Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS780201679 ANO5 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS780202604 CTSK Health Risk Pathogenic/Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS780202686 PIEZO2 Health Risk Conflicting classifications of pathogenicity —
RS780202744 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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