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
RS147001633 DNMT3A Health Risk Pathogenic/Likely pathogenic Acute myeloid leukemia, Tatton-Brown-Rahman overgrowth syndrome
RS147001986 FLNB Health Risk Conflicting classifications of pathogenicity —
RS147002330 TMPO Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, TMPO-related disorder
RS1470030897 BBS7 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS147003118 RSPH4A Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 11
RS147003362 PACS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147004110 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1470053697 FLNC Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS147005619 BRAT1 Health Risk Likely pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neurodevelopmental disorder
RS1470057332 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Familial Mediterranean fever
RS1470058408 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS147005963 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147006017 AMT Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS147006022 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS147006695 PON3 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis
RS1470086286 PDE6B Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS147008826 FGD1 Health Risk Conflicting classifications of pathogenicity Aarskog syndrome, Aarskog syndrome
RS147009600 RP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Inborn genetic diseases
RS147010346 PDE6A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa
RS147011199 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147011203 SP110 Health Risk Conflicting classifications of pathogenicity Hepatic veno-occlusive disease-immunodeficiency syndrome, Inborn genetic diseases
RS147011538 COL17A1 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS1470115977 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Hurler syndrome
RS1470120365 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS147012050 FGD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FGD1-related disorder
RS1470124674 ETHE1 Health Risk Pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS1470125842 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS147012990 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1470131264 ABCB11 Health Risk Pathogenic Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS147013623 SPTB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147013767 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS147013935 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C
RS147014102 SDHA Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 5
RS1470145133 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS1470151699 DPYS Health Risk Pathogenic/Likely pathogenic —
RS147015659 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS147016995 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS1470172490 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS147017625 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hepatoblastoma
RS147018359 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS147019078 PLXNA3 Health Risk Conflicting classifications of pathogenicity PLXNA3-related disorder, PLXNA3-related disorder
RS147019323 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1470193684 ALDH1A3 Health Risk Pathogenic Isolated anophthalmia-microphthalmia syndrome, Isolated anophthalmia-microphthalmia syndrome
RS1470207548 SAMD9 Health Risk Conflicting classifications of pathogenicity Normophosphatemic familial tumoral calcinosis, Normophosphatemic familial tumoral calcinosis
RS147020824 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS147021046 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1470210640 CTCF Health Risk Pathogenic/Likely pathogenic —
RS147021156 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS147021269 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS147021347 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Inborn genetic diseases
RS147021687 RNASEH2C Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 3, Aicardi-Goutieres syndrome 3
RS1470217821 TAP1 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency
RS147021864 NLRC4 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome
RS147021911 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Premature ovarian failure 15
RS147021971 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS147022958 KCNV2 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Inborn genetic diseases
RS1470234875 BCS1L Health Risk Likely pathogenic —
RS147023536 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS147024351 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases
RS147024369 ACACB Health Risk Conflicting classifications of pathogenicity —
RS147024680 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS147024770 DNAH9 Health Risk Conflicting classifications of pathogenicity DNAH9-related disorder, DNAH9-related disorder
RS147025073 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1470253587 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Lissencephaly 9 with complex brainstem malformation
RS147025508 ACP5 Health Risk Conflicting classifications of pathogenicity Spondyloenchondrodysplasia with immune dysregulation, ACP5-related disorder
RS1470255196 ERCC8 Health Risk Pathogenic —
RS1470259761 TBC1D2B Health Risk Likely pathogenic TBC1D2B-related disorder, TBC1D2B-related disorder
RS147026512 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS147026529 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS147026993 DNM2 Health Risk Conflicting classifications of pathogenicity Centronuclear myopathy, Autosomal dominant centronuclear myopathy
RS1470272788 THUMPD1 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1470276886 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Isolated focal cortical dysplasia type II
RS1470290170 ASAH1 Health Risk Pathogenic —
RS1470292816 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS147029972 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147030232 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome 2, Retinitis pigmentosa 74
RS1470306246 SOCS1 Health Risk Pathogenic Autoimmune hemolytic anemia, Autoimmune thrombocytopenia
RS147030757 NR1H4 Health Risk Conflicting classifications of pathogenicity —
RS147031322 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17
RS147031440 ATCAY Health Risk Conflicting classifications of pathogenicity Cayman type cerebellar ataxia, Familial cancer of breast
RS147032284 LCA5 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1470329012 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS147033307 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS147033628 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS147033795 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS147034239 PKLR Health Risk Pathogenic/Likely pathogenic —
RS147034302 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Inborn genetic diseases
RS1470343514 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS147034943 BPTF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147035222 CGAS Health Risk Conflicting classifications of pathogenicity —
RS147035858 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis
RS147036053 NAGLU Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS1470379713 IQSEC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS147038490 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS1470389268 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Adult hypophosphatasia
RS147038941 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS147041710 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS147042111 OSMR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1470431287 DHX38 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS147043213 PRKCSH Health Risk Conflicting classifications of pathogenicity Polycystic liver disease 1, Inborn genetic diseases
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