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
RS201086925 CTSK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201087374 NGF Health Risk Conflicting classifications of pathogenicity Congenital sensory neuropathy with selective loss of small myelinated fibers, Inborn genetic diseases
RS201087513 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS201087689 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS201087979 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS201088230 COL10A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201088233 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome, Alport syndrome
RS201088712 CPAP Health Risk Conflicting classifications of pathogenicity Seckel syndrome 4, Inborn genetic diseases
RS201088736 NDUFAF6 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 17
RS201088755 CCDC22 Health Risk Conflicting classifications of pathogenicity —
RS201088893 IFT80 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy
RS201089046 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS201089102 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS201089284 C1QTNF5;MFRP Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 5, Late-onset retinal degeneration
RS201089405 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS201089543 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS201089582 TSEN54 Health Risk Conflicting classifications of pathogenicity Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 4
RS201089588 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, Amyotrophic lateral sclerosis type 2
RS201089795 SLC25A22 Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Inborn genetic diseases
RS201089861 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201089959 IMPG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201090006 SREBF1 Health Risk Conflicting classifications of pathogenicity Obesity, Inborn genetic diseases
RS201090359 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP4-related disorder
RS201090446 CACNA1C Health Risk Conflicting classifications of pathogenicity Timothy syndrome, Cardiovascular phenotype
RS201090454 FOXI1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS201090517 KCNQ1 Health Risk Conflicting classifications of pathogenicity KCNQ1-related disorder, KCNQ1-related disorder
RS201090618 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS201091083 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS201091341 VCP Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
RS201091360 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS201091376 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201091423 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201091657 CASR Health Risk Pathogenic/Likely pathogenic Nephrolithiasis/nephrocalcinosis, Autosomal dominant hypocalcemia 1
RS201091809 DSTYK Health Risk Conflicting classifications of pathogenicity Congenital anomalies of kidney and urinary tract 1, DSTYK-related disorder
RS201091937 REEP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201092552 SLC4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
RS201092922 FLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201093124 IL7R Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS201093134 LRP5 Health Risk Likely pathogenic —
RS201093313 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS201093383 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS201093528 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Inborn genetic diseases
RS201093943 MTOR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201094018 DCHS1 Health Risk Conflicting classifications of pathogenicity DCHS1-related disorder, Inborn genetic diseases
RS201094135 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201094625 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS201094715 PLCD1 Health Risk Pathogenic/Likely pathogenic Nonsyndromic congenital nail disorder 3, Nonsyndromic congenital nail disorder 3
RS201094741 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS201094782 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS201094791 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS201094892 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS201095081 PCLO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201095164 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
RS201095412 CLN6 Health Risk Conflicting classifications of pathogenicity Ceroid lipofuscinosis, neuronal
RS201095611 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 3, 6 conditions
RS201095666 SRP72 Health Risk Conflicting classifications of pathogenicity SRP72-related disorder, SRP72-related disorder
RS201095702 NR5A1 Health Risk Pathogenic Spermatogenic failure 8, Spermatogenic failure 8
RS201096097 STING1 Health Risk Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy, Autoinflammatory syndrome
RS201096140 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS201096167 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Autoinflammatory syndrome
RS201096509 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS201096652 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS201096943 NADSYN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Vertebral
RS201097154 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 14, Primary ciliary dyskinesia
RS201097286 COQ9 Health Risk Conflicting classifications of pathogenicity —
RS201097669 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS201097695 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Joubert syndrome 23
RS201097962 FN1 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS201098035 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS201098141 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Inborn genetic diseases
RS201098532 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypoparathyroidism
RS201098973 MYBPC3 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype
RS201099907 DNAH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201100122 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS201100181 ABCB6 Health Risk Likely pathogenic Dyschromatosis universalis hereditaria 3, Dyschromatosis universalis hereditaria 3
RS201100248 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS201100272 TTC7A Health Risk Conflicting classifications of pathogenicity Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1
RS201100689 PDE6B Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS201101343 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS201101453 EGF Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, EGF-related disorder
RS201101621 MPDZ Health Risk Conflicting classifications of pathogenicity Hydrocephalus, nonsyndromic
RS201102127 IL17F Health Risk Conflicting classifications of pathogenicity Candidiasis, familial
RS201102144 WFS1 Health Risk Conflicting classifications of pathogenicity Cataract 41, Autosomal dominant nonsyndromic hearing loss 6
RS201102492 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS201102719 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS201102789 RDH12 Health Risk Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS201102889 ADCY6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201103318 ARHGEF15 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS201103723 PTCH1 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 7, Gorlin syndrome
RS201104411 CTU2 Health Risk Pathogenic/Likely pathogenic Microcephaly, facial dysmorphism
RS201104489 USH1C Health Risk Conflicting classifications of pathogenicity —
RS201104498 ADNP Health Risk Conflicting classifications of pathogenicity ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS201104967 ABCB6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201105262 WHRN Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D
RS201105335 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS201105694 ILDR1 Health Risk Conflicting classifications of pathogenicity —
RS201105899 FGA Health Risk Conflicting classifications of pathogenicity Familial visceral amyloidosis, Ostertag type
RS201105914 PDHB Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase complex deficiency
RS201105958 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS201106004 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, ATR-related disorder
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