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
RS112242645 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS112245399 CTSA Health Risk Likely pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS112249223 ASH1L Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 52
RS112249812 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS112250644 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS112253539 STAC3 Health Risk Likely pathogenic Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy
RS112257146 MERTK Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS112259253 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS112261772 TMEM67 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS112262509 DHX37 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, 46
RS112263100 KIAA1549 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS112263266 TTR Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Amyloidosis
RS112265473 ITGA6 Health Risk Likely pathogenic —
RS112266780 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS112269822 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS112269889 SH3TC2 Health Risk Conflicting classifications of pathogenicity Susceptibility to mononeuropathy of the median nerve, mild
RS112273712 NCF4 Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS112274185 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type III
RS112278360 EIF2B5 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 5
RS112282456 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
RS112283999 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS112289537 FBN1 Health Risk Pathogenic Marfan syndrome, Cardiovascular phenotype
RS11229062 SERPING1 Health Risk Conflicting classifications of pathogenicity Hereditary angioedema type 1, Hereditary angioedema type 1
RS112292549 TGM5 Health Risk Pathogenic Acral peeling skin syndrome, Inborn genetic diseases
RS112294663 PHB1 Health Risk risk factor Breast cancer, susceptibility to
RS112298043 AEBP1 Health Risk Pathogenic —
RS112298166 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder
RS112299095 CTSK Health Risk Likely pathogenic —
RS112300370 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Kidney disorder
RS112300381 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS112300885 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS112301354 TTC7A Health Risk Conflicting classifications of pathogenicity Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1
RS112301580 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS11230683 TMEM216 Health Risk Pathogenic Meckel syndrome, type 2
RS112306990 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS112307877 SDHA Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex II deficiency
RS112310699 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS112310856 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
RS112310930 C3 Health Risk Likely pathogenic —
RS112311314 FGFR1 Health Risk Conflicting classifications of pathogenicity Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS112312933 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS112314120 COL4A1 Health Risk Likely pathogenic Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, EBV-positive nodal T- and NK-cell lymphoma
RS112314858 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Inborn genetic diseases
RS112315516 USP53 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, USP53-related disorder
RS112317259 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS112318053 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS112319661 VWF Health Risk Conflicting classifications of pathogenicity VWF-related disorder, VWF-related disorder
RS112321280 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Severe combined immunodeficiency disease
RS112323560 RP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Inborn genetic diseases
RS112323657 FN1 Health Risk Likely pathogenic Glomerulopathy with fibronectin deposits 2, Glomerulopathy with fibronectin deposits 2
RS112326758 FANCM Health Risk Conflicting classifications of pathogenicity Premature ovarian failure 15, Spermatogenic failure 28
RS112327299 RTTN Health Risk Conflicting classifications of pathogenicity —
RS112329020 BCS1L Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex III deficiency nuclear type 1
RS112330156 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, CBL-related disorder
RS112332762 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Inborn genetic diseases
RS112333778 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Budd-Chiari syndrome
RS112334672 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS112335468 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS112341092 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS1123418 NDE1 Health Risk Conflicting classifications of pathogenicity Lissencephaly 4, Lissencephaly 4
RS112346474 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS112353205 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS112355069 DPAGT1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation
RS112357985 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS112360093 NDRG1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS112363874 FLNA Health Risk Likely pathogenic Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS112363898 SCN4B Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome 10
RS112365440 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS112366266 FBN1 Health Risk Pathogenic/Likely pathogenic FBN1-related disorder, FBN1-related disorder
RS112366278 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS112366839 PKD2L1 Health Risk Conflicting classifications of pathogenicity —
RS112368783 POMP Health Risk Pathogenic Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome, Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
RS112369155 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS112371422 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS112374074 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS112374098 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS112375043 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS112380141 RASGRP2 Health Risk Likely pathogenic —
RS112382148 SPARC Health Risk Pathogenic Osteogenesis imperfecta type 17, Osteogenesis imperfecta type 17
RS112382430 PTH1R Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, PTH1R-related disorder
RS112384084 TNK2 Health Risk Conflicting classifications of pathogenicity Parkinson disease, Parkinson disease
RS112384228 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS112385654 HERC2 Health Risk Conflicting classifications of pathogenicity Developmental delay with autism spectrum disorder and gait instability, Developmental delay with autism spectrum disorder and gait instability
RS112387560 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS112388307 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related disorder
RS112402535 DCHS1 Health Risk Conflicting classifications of pathogenicity —
RS112406105 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Acute rhabdomyolysis
RS112410846 EPHB4 Health Risk Likely pathogenic EPHB4-related disorder, EPHB4-related disorder
RS112417755 GATA3 Health Risk Pathogenic Stage 5 chronic kidney disease, Familial cancer of breast
RS112419003 LMNB2 Health Risk Conflicting classifications of pathogenicity Lipodystrophy, partial
RS112419023 TGM1 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 1, Colon adenocarcinoma
RS112419559 SAMD11 Health Risk Conflicting classifications of pathogenicity —
RS112422930 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS112423184 CRTAP Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS112424377 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, Inborn genetic diseases
RS112428007 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Melanoma
RS112430701 OTOGL Health Risk Conflicting classifications of pathogenicity —
RS112431538 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Poly (ADP-Ribose) polymerase inhibitor response
RS112432420 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS112433432 GATA5 Health Risk Conflicting classifications of pathogenicity Congenital heart defects, multiple types
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