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
RS1445431722 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS144543614 RDX Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 24, Gastric cancer
RS144544907 HPD Health Risk Conflicting classifications of pathogenicity Tyrosinemia type III, Hawkinsinuria
RS1445463863 EMILIN1 Health Risk Pathogenic Arterial tortuosity, Arterial tortuosity
RS144546424 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, CPA1-related disorder
RS144546453 FGFR3 Health Risk Conflicting classifications of pathogenicity —
RS144546494 SLC9A7 Health Risk Conflicting classifications of pathogenicity —
RS144547088 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, EP300-related disorder
RS144547132 DNAH9 Health Risk Conflicting classifications of pathogenicity Ciliary dyskinesia, primary
RS1445472389 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS144547521 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS144547776 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS1445488113 HADHA Health Risk Pathogenic/Likely pathogenic Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS144549032 ROR2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Robinow syndrome, Brachydactyly type B1
RS144549206 LAMA3 Health Risk Conflicting classifications of pathogenicity Laryngo-onycho-cutaneous syndrome, Junctional epidermolysis bullosa gravis of Herlitz
RS1445492577 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS144549494 WRAP53 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 3
RS1445498020 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS144552794 CELSR2 Health Risk Conflicting classifications of pathogenicity —
RS144553125 PRDM5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS144553163 MAG Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 75
RS144553482 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS144553917 ARID2 Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS1445563777 UBE3A Health Risk Likely pathogenic Angelman syndrome, Angelman syndrome
RS144556455 BMP4 Health Risk Conflicting classifications of pathogenicity Microphthalmia with brain and digit anomalies, Orofacial cleft 11
RS1445565547 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS1445566495 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1445567359 RFX6 Health Risk Likely pathogenic Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
RS144556766 TNXB Health Risk Pathogenic Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS144556973 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, 3M syndrome 1
RS144557024 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica inversa
RS144557304 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS1445573930 LHFPL5 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 67, Autosomal recessive nonsyndromic hearing loss 67
RS144557847 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS144557870 JAG1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
RS1445590170 PKD2 Health Risk Likely pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS1445598953 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS144560225 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS144560464 TNFRSF13B Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS1445604772 ALDH7A1 Health Risk Pathogenic —
RS1445606491 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS144560850 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS1445612197 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS1445614932 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS1445615417 COL4A3 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS144561715 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, ADGRG1-related disorder
RS144562471 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS144562730 PDE6B Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS144562769 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS1445629270 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS144563288 PITPNM3 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 5, Cone-rod dystrophy 5
RS144563313 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1445637165 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS144563768 CDK13 Health Risk Conflicting classifications of pathogenicity CDK13-related disorder, CDK13-related disorder
RS144563810 QARS1 Health Risk Conflicting classifications of pathogenicity Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, QARS1-related disorder
RS144564069 TSHR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144564120 ERCC2 Health Risk Pathogenic/Likely pathogenic Mixed Phenotype Acute Leukemia, T/Myeloid
RS144565023 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1445660531 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS144566580 MYLK3 Health Risk Conflicting classifications of pathogenicity —
RS144566713 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS144567556 TCTN2 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 24, Meckel syndrome
RS144567652 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Spermatogenic failure 28
RS1445681647 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome 3
RS144568600 RTEL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Dyskeratosis congenita
RS1445687820 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1445690889 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1445693994 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS144570086 NDUFS7 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS1445702123 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS1445703494 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS1445707939 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1445709911 FMN2 Health Risk Likely pathogenic —
RS1445719596 IDUA Health Risk Pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS144572349 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS144572461 COL2A1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1445724752 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS144572650 PRKCD Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
RS144573139 FCGR2B Health Risk Conflicting classifications of pathogenicity —
RS144573168 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Malignant tumor of esophagus
RS144573813 PIKFYVE Health Risk Conflicting classifications of pathogenicity Fleck corneal dystrophy, Fleck corneal dystrophy
RS144574076 MAGI2 Health Risk Conflicting classifications of pathogenicity MAGI2-related disorder, MAGI2-related disorder
RS144574243 PGAP3 Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4
RS144574284 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS144575084 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS144575803 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS144576999 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS144577122 SH3BP2 Health Risk Conflicting classifications of pathogenicity Fibrous dysplasia of jaw, Malignant tumor of urinary bladder
RS1445771901 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS144577347 FBN3 Health Risk Conflicting classifications of pathogenicity —
RS144577827 TOP3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1445791014 CYFIP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144579834 SI Health Risk Conflicting classifications of pathogenicity SI-related disorder, Inborn genetic diseases
RS1445801336 CHRNE Health Risk Likely pathogenic —
RS1445802934 GRIN2A Health Risk Pathogenic/Likely pathogenic Landau-Kleffner syndrome, Inborn genetic diseases
RS144580853 KANK1 Health Risk Conflicting classifications of pathogenicity KANK1-related disorder, KANK1-related disorder
RS144581570 ROGDI Health Risk Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS144581583 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Glomerulopathy with fibronectin deposits 2
RS144581584 SLC5A1 Health Risk Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS144581626 COL9A1 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Hearing impairment
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