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
RS201686997 GRN Health Risk Conflicting classifications of pathogenicity GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS201687037 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS201687359 KCNN4 Health Risk Conflicting classifications of pathogenicity Dehydrated hereditary stomatocytosis 2, Dehydrated hereditary stomatocytosis 2
RS201687390 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201687417 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Clear cell carcinoma of kidney
RS201688261 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS201688358 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS201688381 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS2016886160 NFIX Health Risk Likely pathogenic —
RS201688627 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Inborn genetic diseases
RS2016886281 NFIX Health Risk Conflicting classifications of pathogenicity Marshall-Smith syndrome, Malan overgrowth syndrome
RS201688876 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS201689325 DBH Health Risk Conflicting classifications of pathogenicity Orthostatic hypotension 1, Orthostatic hypotension 1
RS201689565 SPG11 Health Risk Pathogenic/Likely pathogenic Difficulty walking, Spastic paraparesis
RS201689582 RTTN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201689771 TERF2IP Health Risk Conflicting classifications of pathogenicity —
RS201689819 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, MYO15A-related disorder
RS201690040 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS201690337 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Inborn genetic diseases
RS201690494 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS201690610 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS201690858 SNORD118 Health Risk Conflicting classifications of pathogenicity —
RS201690866 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Intellectual disability
RS201691098 RORC Health Risk Conflicting classifications of pathogenicity Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Inborn genetic diseases
RS201691370 FOXH1 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly sequence, Inborn genetic diseases
RS201691420 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS201691879 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, TG-related disorder
RS201691906 TRIOBP Health Risk Conflicting classifications of pathogenicity —
RS2016920143 NFIX Health Risk Likely pathogenic Malan overgrowth syndrome, Malan overgrowth syndrome
RS201692151 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS201692179 PROM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201692212 MME Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T
RS201692248 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS201692326 RP1L1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2016923973 NFIX Health Risk Likely pathogenic Malan overgrowth syndrome, Malan overgrowth syndrome
RS201692401 IFT43 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 81, Cranioectodermal dysplasia 3
RS201692549 SELENON Health Risk Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy, SEPN1-related disorder
RS201692550 NBEA Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy
RS201692579 DCT Health Risk Pathogenic Oculocutaneous albinism type 8, Oculocutaneous albinism type 8
RS201692749 AAAS Health Risk Conflicting classifications of pathogenicity Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS201693154 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS201693189 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder
RS201693219 ITPR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201693280 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Conduction disorder of the heart
RS201693535 TARDBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 10
RS201693690 TRIOBP Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 28, TRIOBP-related disorder
RS201693851 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201693932 MAP3K20 Health Risk Conflicting classifications of pathogenicity MAP3K20-related disorder, MAP3K20-related disorder
RS201694149 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201694319 LYST Health Risk Pathogenic/Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS201694328 TGM6 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35, TGM6-related disorder
RS201694466 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS201694674 FERMT1 Health Risk Conflicting classifications of pathogenicity Kindler syndrome, FERMT1-related disorder
RS201695575 DNAH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201695815 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS201696115 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS201696514 SLC12A1 Health Risk Likely pathogenic Bartter disease type 1, Bartter disease type 1
RS201696710 JMJD1C Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early myoclonic encephalopathy
RS201696973 ENPP1 Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Hypophosphatemic rickets
RS201697063 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS201697259 RAB27A Health Risk Conflicting classifications of pathogenicity Griscelli syndrome type 2, Autoinflammatory syndrome
RS201697532 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome
RS201698049 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS201698409 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, JAK3-related disorder
RS201698592 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Jervell and Lange-Nielsen syndrome 1
RS201698934 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS201699015 TRPS1 Health Risk Conflicting classifications of pathogenicity See cases, Trichorhinophalangeal syndrome
RS201699810 PEX13 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 11A (Zellweger), PEX13-related disorder
RS201699865 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Inborn genetic diseases
RS201700614 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases
RS201700675 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS201700756 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS201701066 AGA Health Risk Pathogenic/Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS201701259 NHLRC2 Health Risk Pathogenic Fibrosis, neurodegeneration
RS201701647 PROM1 Health Risk Conflicting classifications of pathogenicity Stargardt disease 4, Cone-rod dystrophy 12
RS201701802 AKR1B15 Health Risk Conflicting classifications of pathogenicity —
RS201702041 ROBO3 Health Risk Conflicting classifications of pathogenicity Gaze palsy, familial horizontal
RS201702563 RP9 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS201702616 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS201702907 PDE6C Health Risk Conflicting classifications of pathogenicity Cone dystrophy 4, Achromatopsia
RS201703193 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS201703288 DDB2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group E
RS201703547 CTF1 Health Risk Conflicting classifications of pathogenicity —
RS201703640 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS201703853 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201703858 ZFP57 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS201703963 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, TNXB-related disorder
RS201704250 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS201704771 ACTN4 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 1, Focal segmental glomerulosclerosis 1
RS201704801 SLC9A3 Health Risk Conflicting classifications of pathogenicity Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8
RS201705049 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS201705066 LIG3 Health Risk Conflicting classifications of pathogenicity —
RS201706020 ALOXE3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
RS201706177 COQ6 Health Risk Conflicting classifications of pathogenicity Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Inborn genetic diseases
RS201706408 SOST Health Risk Conflicting classifications of pathogenicity Sclerosteosis 1, Sclerosteosis 1
RS201706430 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS201706459 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS201706487 ATG7 Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia, autosomal recessive 31
RS201706560 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS201706790 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
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