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
RS28937573 HSF4 Health Risk Pathogenic Cataract 5 multiple types, Cataract 5 multiple types
RS28937575 FOXE1 Health Risk Pathogenic Bamforth-Lazarus syndrome, Bamforth-Lazarus syndrome
RS28937578 EP300 Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS28937579 BAAT Health Risk Pathogenic Bile acid conjugation defect 1, Bile acid conjugation defect 1
RS28937580 NOG Health Risk Pathogenic Proximal symphalangism 1A, Brachydactyly type B2
RS28937581 DYSF Health Risk Pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS28937583 GJB3 Health Risk Pathogenic Erythrokeratodermia variabilis et progressiva 1, Autosomal dominant nonsyndromic hearing loss 2B
RS28937584 TSHR Health Risk Pathogenic THYROID CARCINOMA WITH THYROTOXICOSIS, SOMATIC
RS28937587 FLNB Health Risk Likely pathogenic Atelosteogenesis type III, Atelosteogenesis type III
RS28937588 KCNQ4 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 2A, Nonsyndromic genetic hearing loss
RS28937590 BCS1L Health Risk Pathogenic GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
RS28937591 OTOF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS28937593 CHST3 Health Risk Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS28937594 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS28937595 SLC19A2 Health Risk Pathogenic/Likely pathogenic Megaloblastic anemia, thiamine-responsive
RS28937596 EIF2B5 Health Risk Pathogenic Leukoencephalopathy with vanishing white matter 5, Leukoencephalopathy with vanishing white matter 5
RS28937597 MYOT Health Risk Pathogenic Myofibrillar myopathy 3, Myofibrillar myopathy 3
RS28937598 SCO2 Health Risk Conflicting classifications of pathogenicity Cardioencephalomyopathy, fatal infantile
RS28937868 SCO2 Health Risk Pathogenic Cardioencephalomyopathy, fatal infantile
RS28937869 B4GALT7 Health Risk Pathogenic Ehlers-Danlos syndrome progeroid type, Larsen-like syndrome
RS28937872 GJB6 Health Risk Pathogenic Hidrotic ectodermal dysplasia syndrome, Autosomal dominant nonsyndromic hearing loss 3B
RS28937873 NR2E3 Health Risk Pathogenic/Likely pathogenic Enhanced S-cone syndrome, Goldmann-Favre syndrome
RS28937874 LGI1 Health Risk Pathogenic Epilepsy, familial temporal lobe
RS28937875 MKKS Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 6, Bardet-Biedl syndrome
RS28937877 CHST6 Health Risk Pathogenic Macular corneal dystrophy, Macular corneal dystrophy
RS28937878 CHST6 Health Risk Pathogenic Macular corneal dystrophy, Macular corneal dystrophy
RS28937879 CHST6 Health Risk Pathogenic Macular corneal dystrophy, type II
RS28937880 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Periventricular heterotopia with microcephaly, autosomal recessive
RS28937882 FGF23 Health Risk Pathogenic/Likely pathogenic Autosomal dominant hypophosphatemic rickets, Autosomal dominant hypophosphatemic rickets
RS28937883 RPGRIP1 Health Risk Likely pathogenic Cone-rod dystrophy 13, Retinal dystrophy
RS28937884 FOXL2 Health Risk Pathogenic BLEPHAROPHIMOSIS, PTOSIS
RS28937885 FOXL2 Health Risk Conflicting classifications of pathogenicity Premature ovarian failure 3, Blepharophimosis
RS28937886 SLC35C1 Health Risk Pathogenic Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II
RS28937887 TWNK Health Risk Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic
RS28937888 SLURP1 Health Risk Pathogenic Acroerythrokeratoderma, Acroerythrokeratoderma
RS28937889 SLURP1 Health Risk Likely pathogenic Acroerythrokeratoderma, Acroerythrokeratoderma
RS28937890 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS28937891 WFS1 Health Risk Likely pathogenic Wolfram syndrome 1, Type 2 diabetes mellitus
RS28937892 WFS1 Health Risk Pathogenic Wolfram syndrome 1, Wolfram-like syndrome
RS28937893 WFS1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 6, Rare genetic deafness
RS28937894 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, Monogenic hearing loss
RS28937895 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, Autosomal dominant nonsyndromic hearing loss 6
RS28937896 NLRP3 Health Risk Pathogenic Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome
RS28937897 LZTS1 Health Risk Pathogenic Esophageal squamous cell carcinoma, somatic
RS28937899 OPA3 Health Risk Pathogenic/Likely pathogenic 3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3
RS28937900 FKRP Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy
RS28937901 FKRP Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS28937902 FKRP Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy type B5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS28937903 FKRP Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS28937904 FKRP Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy type B5, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS28937905 FKRP Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy
RS28937906 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease recessive intermediate A, Charcot-Marie-Tooth disease type 4A
RS28937907 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS28937908 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS28937909 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS28938168 FXYD2 Health Risk Pathogenic Renal hypomagnesemia 2, Renal hypomagnesemia 2
RS28938170 SH3BP2 Health Risk Pathogenic Fibrous dysplasia of jaw, Fibrous dysplasia of jaw
RS28938171 SH3BP2 Health Risk Likely pathogenic Fibrous dysplasia of jaw, Fibrous dysplasia of jaw
RS28938172 PARK7 Health Risk Pathogenic Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7
RS28938173 PRKAG2 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 6, Hypertrophic cardiomyopathy
RS28938174 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS28938175 COCH Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 9, Nonsyndromic genetic hearing loss
RS28938176 RAB27A Health Risk Pathogenic Griscelli syndrome type 2, Griscelli syndrome type 2
RS28938468 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 1
RS28938469 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS28938472 GSS Health Risk Pathogenic/Likely pathogenic Glutathione synthetase deficiency without 5-oxoprolinuria, Inherited glutathione synthetase deficiency
RS28938473 ABCA4 Health Risk Likely pathogenic Stargardt disease, Severe early-childhood-onset retinal dystrophy
RS28938474 TBX4 Health Risk Pathogenic Coxopodopatellar syndrome, Coxopodopatellar syndrome
RS28938771 IL36RN Health Risk Conflicting classifications of pathogenicity Generalized pustular psoriasis, Autoinflammatory syndrome
RS28938778 IL36RN Health Risk Conflicting classifications of pathogenicity Generalized pustular psoriasis, Autoinflammatory syndrome
RS28939068 CST3 Health Risk Pathogenic Hereditary cerebral amyloid angiopathy, Icelandic type
RS28939069 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
RS28939070 TRPS1 Health Risk Pathogenic/Likely pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
RS28939071 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS28939072 FBLN5 Health Risk Conflicting classifications of pathogenicity Macular degeneration, age-related
RS28939075 LGI1 Health Risk Pathogenic Epilepsy, familial temporal lobe
RS28939076 SLC40A1 Health Risk Pathogenic Hemochromatosis type 4, Hemochromatosis type 4
RS28939077 ABHD5 Health Risk Pathogenic Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis
RS28939078 ABHD5 Health Risk Pathogenic Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis
RS28939079 TREM2 Health Risk Conflicting classifications of pathogenicity Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
RS28939080 ANKH Health Risk Likely pathogenic Craniometaphyseal dysplasia, autosomal dominant
RS28939081 ATP6V0A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive distal renal tubular acidosis, Renal tubular acidosis
RS28939082 OPA1 Health Risk Pathogenic Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS28939084 TMPRSS3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 8, Ear malformation
RS28939085 HSD17B3 Health Risk Pathogenic Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
RS28939086 SLC26A4 Health Risk Pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS28939087 SLC35C1 Health Risk Likely pathogenic Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II
RS28939088 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS28939089 PSTPIP1 Health Risk Pathogenic Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
RS28939092 DHCR24 Health Risk Likely pathogenic Desmosterolosis, Desmosterolosis
RS28939094 ATL1 Health Risk Pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS28939370 FBLN5 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal recessive
RS28939378 ALG1 Health Risk Pathogenic/Likely pathogenic ALG1-congenital disorder of glycosylation, Inborn genetic diseases
RS28939668 JAG1 Health Risk Likely pathogenic Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation
RS28939672 PHYH Health Risk Pathogenic REFSUM DISEASE, ADULT
RS28939675 TBX1 Health Risk Pathogenic Conotruncal anomaly face syndrome, Conotruncal anomaly face syndrome
RS28939677 MATN3 Health Risk Pathogenic Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia
RS28939679 NDUFS8 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 2
RS28939680 HSPB1 Health Risk Pathogenic/Likely pathogenic Neuronopathy, distal hereditary motor
RS28939681 HSPB1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease axonal type 2F
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