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
RS201432046 TGM1 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS201432154 ASNS Health Risk Conflicting classifications of pathogenicity Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS201432170 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS201432371 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS201432429 PCLO Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 3, PCLO-related disorder
RS201432579 APOB Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Familial hypobetalipoproteinemia 1
RS201432731 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS201433028 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS201433617 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS201433824 ARHGEF10 Health Risk Conflicting classifications of pathogenicity —
RS201434219 EYA1 Health Risk Conflicting classifications of pathogenicity Branchiootic syndrome 1, Branchiootorenal syndrome 1
RS201434271 NEXMIF Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability, Cantagrel type
RS201434373 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS201434579 CFTR Health Risk Conflicting classifications of pathogenicity CFTR-related disorder, Cystic fibrosis
RS201434720 PLEKHN1 Health Risk Conflicting classifications of pathogenicity —
RS201434993 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome
RS201435560 LRRC10 Health Risk Conflicting classifications of pathogenicity —
RS201435578 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS201435914 DPRX Health Risk Pathogenic Short stature, Short stature
RS201436915 VPS33B Health Risk Conflicting classifications of pathogenicity VPS33B-related disorder, VPS33B-related disorder
RS201437391 DST Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS201437583 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2014377 SIX5 Health Risk Conflicting classifications of pathogenicity —
RS201437704 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, NLRP12-related disorder
RS201437752 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary dilated cardiomyopathy
RS201437896 SLC6A9 Health Risk Pathogenic/Likely pathogenic Atypical glycine encephalopathy, Atypical glycine encephalopathy
RS201438531 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group G
RS201439078 PAX6 Health Risk Likely pathogenic Aniridia 1, Aniridia 1
RS201439364 DOCK2 Health Risk Conflicting classifications of pathogenicity DOCK2 deficiency, Inborn genetic diseases
RS201439531 CHAT Health Risk Pathogenic 11 conditions, Familial infantile myasthenia
RS201439617 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 6
RS201439692 ZFPM2 Health Risk Conflicting classifications of pathogenicity 46, XY sex reversal 9
RS201439880 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS201439984 HPS5 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS201440361 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS201440611 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS201440695 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS201440849 RRM2B Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS201441007 MPDZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201441662 PUS1 Health Risk Conflicting classifications of pathogenicity Myopathy, lactic acidosis
RS201441835 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201441886 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS201442201 TRPM1 Health Risk Conflicting classifications of pathogenicity —
RS201442213 CEP152 Health Risk Conflicting classifications of pathogenicity Seckel syndrome 5, Seckel syndrome 5
RS201442593 PIEZO1 Health Risk Conflicting classifications of pathogenicity Lymphatic malformation 6, Lymphatic malformation 6
RS201442609 SEPTIN9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201443294 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, PEX1-related disorder
RS201443830 PRPF31 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS201444192 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, Inborn genetic diseases
RS201445071 CAD Health Risk Conflicting classifications of pathogenicity —
RS201445121 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS201445608 INSR Health Risk Conflicting classifications of pathogenicity —
RS201445618 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
RS201446570 SLC1A2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 41
RS201446793 CTSK Health Risk Conflicting classifications of pathogenicity Pyknodysostosis, Chronic lymphocytic leukemia/small lymphocytic lymphoma
RS201446851 XPC Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group C
RS201446948 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS201446992 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, Inborn genetic diseases
RS201447520 GARS1 Health Risk Conflicting classifications of pathogenicity Distal spinal muscular atrophy, Neuronopathy
RS201447781 NEXN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20
RS201448246 SLC20A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201448899 ESRRB Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35
RS201448988 TTN Health Risk Conflicting classifications of pathogenicity —
RS201449358 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, CNGB1-related retinopathy
RS201449422 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS201449759 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS201449923 PPP1CB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS201450276 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy
RS201450663 NFIA Health Risk Conflicting classifications of pathogenicity —
RS201451028 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS201451115 PMS2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS201451382 GAN Health Risk Conflicting classifications of pathogenicity Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS201452238 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS201452322 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201452522 NXF5 Health Risk Conflicting classifications of pathogenicity —
RS201452909 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS201452975 SLC24A1 Health Risk Pathogenic Congenital stationary night blindness 1D, SLC24A1-related disorder
RS201453118 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, ADGRV1-related disorder
RS201453600 TGFB3 Health Risk Conflicting classifications of pathogenicity Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS201453637 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS201453889 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS201454106 PERP Health Risk Pathogenic Olmsted syndrome 2, Olmsted syndrome 2
RS201454261 MYPN Health Risk Conflicting classifications of pathogenicity Restrictive cardiomyopathy, Dilated cardiomyopathy 1KK
RS201454406 RIMS1 Health Risk Conflicting classifications of pathogenicity —
RS201454433 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS201454653 SCN4B Health Risk Conflicting classifications of pathogenicity Long QT syndrome 10, Cardiovascular phenotype
RS201454788 BCS1L Health Risk Pathogenic/Likely pathogenic Pili torti-deafness syndrome, GRACILE syndrome
RS201455315 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS201455322 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Inborn genetic diseases
RS201455840 CTC1 Health Risk Pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1, Cerebroretinal microangiopathy with calcifications and cysts 1
RS201455968 DHTKD1 Health Risk Conflicting classifications of pathogenicity 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS201456469 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS201456476 FOXC2 Health Risk Conflicting classifications of pathogenicity Distichiasis-lymphedema syndrome, Inborn genetic diseases
RS201456672 KANK1 Health Risk Conflicting classifications of pathogenicity Cerebral palsy, spastic quadriplegic
RS201456681 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS201457010 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 9, Primary ciliary dyskinesia
RS201457594 ADAMTS13 Health Risk Likely pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS201457616 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Microcephaly
RS201457934 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Myopathy
RS201458068 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Cardiovascular phenotype
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