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
RS779054512 SNRNP200 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779055639 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS779055763 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS779056077 FMO3 Health Risk Likely pathogenic —
RS779057710 F12 Health Risk Conflicting classifications of pathogenicity Hereditary angioedema type 3, Factor XII deficiency disease
RS779057846 PPP1R13L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779058019 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Cardiovascular phenotype
RS779058045 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS779058198 PJVK Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59
RS779058606 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS779058797 DDX11 Health Risk Pathogenic/Likely pathogenic Warsaw breakage syndrome, Warsaw breakage syndrome
RS779058908 NOTCH1 Health Risk Likely pathogenic Adams-Oliver syndrome 5, Aortic valve disease 1
RS779059079 SYNJ1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 53
RS779059111 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Vesicoureteral reflux 8
RS779061035 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS779061307 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS779061835 INPP5K Health Risk Likely pathogenic Congenital muscular dystrophy with cataracts and intellectual disability, Congenital muscular dystrophy with cataracts and intellectual disability
RS779062292 ANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779062746 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS779062750 SAG Health Risk Likely pathogenic —
RS779063102 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779063280 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS779064113 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS779064342 PMS2 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS779064556 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS779064623 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
RS779064962 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS779065920 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS779066277 PRCD Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS779068107 PHOX2B Health Risk Conflicting classifications of pathogenicity Haddad syndrome, Hereditary cancer-predisposing syndrome
RS779068685 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, APC-related disorder
RS779069205 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS779069462 DLC1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, Colorectal cancer
RS779069779 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS779070661 PPM1D Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, PPM1D-related disorder
RS779072238 PROM1 Health Risk Conflicting classifications of pathogenicity Retinal macular dystrophy type 2, Stargardt disease 4
RS779072984 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS9-related disorder
RS779073348 NSUN6 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 82
RS779073410 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS779073874 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS779074538 SLC12A3 Health Risk Conflicting classifications of pathogenicity Hypokalemia, Hypermagnesemia
RS779075858 VPS13A Health Risk Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS779076899 EGFR Health Risk Conflicting classifications of pathogenicity Lung carcinoma, EGFR-related lung cancer
RS779077039 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Hearing loss
RS779077340 CYP11B1 Health Risk Pathogenic —
RS779077819 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS779077930 CACNA1G Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 42, Epilepsy
RS779078202 ERCC5 Health Risk Pathogenic Xeroderma pigmentosum, Xeroderma pigmentosum
RS779079091 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS779079128 FLNC Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement
RS779079304 NDP Health Risk Pathogenic —
RS779079622 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group I, Fanconi anemia
RS779080464 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS779080598 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS779080655 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS779080942 SELENON Health Risk Conflicting classifications of pathogenicity SEPN1-related disorder, Eichsfeld type congenital muscular dystrophy
RS779081481 APOA1 Health Risk Pathogenic —
RS779082252 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779082302 PKP2 Health Risk Pathogenic Cardiomyopathy, Cardiomyopathy
RS779083426 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Inborn genetic diseases
RS779084293 SETD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS779084533 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS77908553 SLITRK1 Health Risk Conflicting classifications of pathogenicity Tourette syndrome, Tourette syndrome
RS779085612 PDE6B Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS779086242 OCA2 Health Risk Conflicting classifications of pathogenicity SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS779086531 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS779087076 SLC24A5 Health Risk Pathogenic —
RS779088327 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS779088731 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS779089442 AUTS2 Health Risk Pathogenic/Likely pathogenic Autism spectrum disorder due to AUTS2 deficiency, Inborn genetic diseases
RS779091017 GABRB2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Developmental and epileptic encephalopathy 92
RS779091629 COL4A2 Health Risk Conflicting classifications of pathogenicity —
RS779091652 ERCC4 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome, Xeroderma pigmentosum
RS779091957 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS779092602 CD27 Health Risk Conflicting classifications of pathogenicity Lymphoproliferative syndrome 2, Lymphoproliferative syndrome 2
RS779093031 SHH Health Risk Pathogenic Holoprosencephaly 3, Developmental and epileptic encephalopathy
RS779093187 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Intellectual disability
RS779093591 WDR62 Health Risk Conflicting classifications of pathogenicity —
RS779093807 MYO15A Health Risk Pathogenic —
RS779094763 BRWD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779095081 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS779096015 ABCB11 Health Risk Conflicting classifications of pathogenicity ABCB11-related disorder, ABCB11-related disorder
RS779096974 PTPN23 Health Risk Pathogenic/Likely pathogenic Brain atrophy, Global developmental delay
RS779097101 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS779097933 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS779098163 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS779098734 NBN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS779099247 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS779099343 DMD Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Becker muscular dystrophy
RS779099486 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS779099521 CELSR1 Health Risk Conflicting classifications of pathogenicity —
RS779099686 RECQL Health Risk Conflicting classifications of pathogenicity —
RS779100523 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS779101144 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS779101498 SPATA7 Health Risk Pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS779101695 KAT6A Health Risk Conflicting classifications of pathogenicity Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Inborn genetic diseases
RS779101769 CCDC88C Health Risk Pathogenic —
RS779102012 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS779102560 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS779103467 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
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