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
RS150929930 CABP4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS150930737 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS150930917 HADH Health Risk Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase, HADH-related disorder
RS150931007 HSPB3 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS150931558 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS150931608 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS150931842 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Occult macular dystrophy
RS150932144 ENG Health Risk Conflicting classifications of pathogenicity Haemorrhagic telangiectasia 1, Telangiectasia
RS150935953 ERCC6 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 1, Age related macular degeneration 5
RS150936382 WFS1 Health Risk Conflicting classifications of pathogenicity —
RS150936702 LEPR Health Risk Conflicting classifications of pathogenicity Obesity due to leptin receptor gene deficiency, LEPR-related disorder
RS150936707 HCN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 24
RS150936840 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS150937126 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS150937195 SIPA1 Health Risk Conflicting classifications of pathogenicity —
RS150938052 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS150938324 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS150939596 DSE Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, musculocontractural type 2
RS150939711 GUCY2C Health Risk Conflicting classifications of pathogenicity —
RS150940045 LAMA1 Health Risk Conflicting classifications of pathogenicity —
RS150940923 THOC6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
RS150942022 SLC17A4 Health Risk Conflicting classifications of pathogenicity —
RS150942110 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases
RS150942486 DYSF Health Risk Conflicting classifications of pathogenicity Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS150943639 IDH2 Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 2, D-2-hydroxyglutaric aciduria 2
RS150943866 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Inborn genetic diseases
RS150944204 KIF1C Health Risk Conflicting classifications of pathogenicity Spastic ataxia 2, Hereditary spastic paraplegia
RS150944234 SHANK2 Health Risk Conflicting classifications of pathogenicity —
RS150944421 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS150944593 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Inborn genetic diseases
RS150944645 DLD Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS150944918 LAMA5 Health Risk Conflicting classifications of pathogenicity —
RS150945378 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related disorder
RS150945472 FBN3 Health Risk Conflicting classifications of pathogenicity —
RS150946659 SLC26A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS150947109 PKD2 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS150947880 FLNB Health Risk Conflicting classifications of pathogenicity —
RS150949949 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS150951106 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinitis pigmentosa
RS150951216 MYH3 Health Risk Likely pathogenic MYH3-related disorder, MYH3-related disorder
RS150951454 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS150953050 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Autoinflammatory syndrome
RS150954040 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS150954246 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS150954655 ERCC3 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group B, Trichothiodystrophy 2
RS150955045 NDUFAF5 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, Mitochondrial complex I deficiency
RS150955833 NRAP Health Risk Conflicting classifications of pathogenicity NRAP-related disorder, Cardiovascular phenotype
RS150956385 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS150958750 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS150959263 FYCO1 Health Risk Conflicting classifications of pathogenicity Cataract 18, Cataract 18
RS150959878 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS150961139 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS150963475 KCNE1 Health Risk Conflicting classifications of pathogenicity Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5
RS150963629 WARS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150964803 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS150965747 VPS13D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150965854 LAMC3 Health Risk Conflicting classifications of pathogenicity —
RS150966028 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS150966634 NDUFV1 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 1
RS150966716 WDR62 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150966847 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS150968280 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS150968591 GRM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150968594 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 11
RS150969241 NRAS Health Risk Conflicting classifications of pathogenicity Noonan syndrome 6, Noonan syndrome 6
RS150969538 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Cone-rod dystrophy 15
RS150969631 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS150970273 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Cardiovascular phenotype
RS150970657 ENPP1 Health Risk Conflicting classifications of pathogenicity Arterial calcification, generalized
RS150970825 SLC10A2 Health Risk Conflicting classifications of pathogenicity —
RS150971143 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS150971216 NAA10 Health Risk Conflicting classifications of pathogenicity —
RS150972216 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS150972552 TRIO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150972720 GATAD2B Health Risk Conflicting classifications of pathogenicity Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS150972875 ADGRE2 Health Risk Conflicting classifications of pathogenicity —
RS150973053 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS150974313 CDON Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 11, Inborn genetic diseases
RS150974461 BMPR1B Health Risk Conflicting classifications of pathogenicity Brachydactyly, Acromesomelic dysplasia 3
RS150974575 DES Health Risk Conflicting classifications of pathogenicity Neuromuscular disease, Primary dilated cardiomyopathy
RS150974695 SLFN14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150974807 TNFRSF13B Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS150975285 DNAAF11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 19
RS150975400 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS150975627 NHLRC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NHLRC2-related disorder
RS150977055 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Inborn genetic diseases
RS150977180 AGPS Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
RS150977210 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, ABCG8-related disorder
RS150977342 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy
RS150977380 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS150979437 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal recessive Alport syndrome
RS150979829 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS150980372 MORC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2Z, Inborn genetic diseases
RS150980575 ATP6V1C2 Health Risk Likely pathogenic Distal renal tubular acidosis, Distal renal tubular acidosis
RS150980616 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS150981315 PPP2R2B Health Risk Conflicting classifications of pathogenicity Clear cell carcinoma of kidney, Spinocerebellar ataxia type 12
RS150981983 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS150982073 OTX2 Health Risk Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome, Syndromic microphthalmia type 5
RS150982987 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal dominant
RS150983259 MYO1E Health Risk Conflicting classifications of pathogenicity MYO1E-related disorder, MYO1E-related disorder
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