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
RS765874503 JPH2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS765874994 TGM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765875054 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS765876148 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Inborn genetic diseases
RS765876840 EXOSC9 Health Risk Pathogenic —
RS765877577 DRC4 Health Risk Pathogenic Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33
RS765877669 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS765878448 DUOX2 Health Risk Pathogenic —
RS765878996 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS765879182 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS765879360 PNLIP Health Risk Pathogenic Pancreatic triacylglycerol lipase deficiency, Pancreatic triacylglycerol lipase deficiency
RS765879488 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS765879627 SAMHD1 Health Risk Conflicting classifications of pathogenicity Aicardi Goutieres syndrome, Aicardi-Goutieres syndrome 5
RS765880201 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS765880758 VPS13C Health Risk Likely pathogenic —
RS765881070 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS765881142 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS765881830 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS765882664 FBXL4 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS765882871 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS765883164 EVC2 Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS765883419 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS765884316 SLC26A4 Health Risk Pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS765884493 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS765885227 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS765885747 FKRP Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy
RS765886157 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS765886997 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS765887304 IFIH1 Health Risk Pathogenic Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
RS765887398 TIMM50 Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria type 9, Mitochondrial disease
RS765887545 BMPR2 Health Risk Pathogenic Pulmonary arterial hypertension, Pulmonary hypertension
RS765887558 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS765888059 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS765888527 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS765889601 NGLY1 Health Risk Pathogenic Inborn genetic diseases, Congenital disorder of deglycosylation
RS765889649 ATP8B1 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS765889961 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS765890822 FANCB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FANCB-related disorder
RS765891838 TICAM1 Health Risk Conflicting classifications of pathogenicity Herpes simplex encephalitis, susceptibility to
RS765892446 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS765892492 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS765893479 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
RS765893483 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS765895405 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS765895661 AGPS Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
RS765895870 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS765896234 ECHS1 Health Risk Pathogenic —
RS765896679 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS765896727 CBLIF Health Risk Pathogenic Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency
RS765897602 GANAB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765897805 NHERF1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic nephrolithiasis/osteoporosis 2, Inborn genetic diseases
RS765900740 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765901307 CERKL Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS765903345 TRAF3IP1 Health Risk Pathogenic Senior-Loken syndrome 9, Senior-Loken syndrome 9
RS765903997 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS765904496 WARS2 Health Risk Likely pathogenic Neurodevelopmental disorder, mitochondrial
RS765904696 STAR Health Risk Pathogenic/Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS765904792 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS765905797 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS765905826 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS765906028 CLASP1;CLASP1-AS1;RNU4ATAC Health Risk Conflicting classifications of pathogenicity Roifman syndrome, RNU4ATAC-related disorder
RS765906060 ESRRB Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35
RS765906340 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS765906814 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS765906887 BTD Health Risk Pathogenic Cryptorchidism, Global developmental delay
RS765906921 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1F
RS765907469 SCN5A Health Risk Conflicting classifications of pathogenicity Long QT syndrome 3, Long QT syndrome 3
RS765907815 CLMP Health Risk Pathogenic/Likely pathogenic Intestinal pseudo-obstruction, Congenital short bowel syndrome
RS765908199 CEP83 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 18, Nephronophthisis 18
RS765908556 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS765909421 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS765909612 CSPP1 Health Risk Likely pathogenic Joubert syndrome 21, Uterine corpus endometrial carcinoma
RS765909830 ATP1A2 Health Risk Pathogenic/Likely pathogenic Alternating hemiplegia of childhood 1, Familial hemiplegic migraine
RS765910207 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS765911147 SLC4A1 Health Risk Conflicting classifications of pathogenicity Hemolytic anemia, Autosomal dominant distal renal tubular acidosis
RS765911841 LRPPRC Health Risk Conflicting classifications of pathogenicity —
RS765912235 PPP3CA Health Risk Conflicting classifications of pathogenicity Arthrogryposis, cleft palate
RS765912677 TAOK2 Health Risk Conflicting classifications of pathogenicity —
RS765912815 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS765912979 AFG2B Health Risk Pathogenic/Likely pathogenic Hearing loss, autosomal recessive 119
RS765913293 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS76591348 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS765914927 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS765914942 RDH12 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Leber congenital amaurosis
RS765915351 SLC34A1 Health Risk Likely pathogenic —
RS765915512 NDUFAF6 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 17
RS765916932 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS765917912 EEF1B2 Health Risk Pathogenic Global developmental delay, Global developmental delay
RS765918593 FBLN1 Health Risk Conflicting classifications of pathogenicity —
RS765919309 SCN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765919667 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrullinemia
RS765919785 COL18A1 Health Risk Pathogenic Retinal dystrophy, Cataract
RS765920708 IFT27 Health Risk Likely pathogenic Bardet-Biedl syndrome 19, Bardet-Biedl syndrome 19
RS765920886 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS765921219 CYP11B2 Health Risk Pathogenic/Likely pathogenic Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency
RS765921628 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS765921831 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS765921870 GJB2 Health Risk Conflicting classifications of pathogenicity Nonsyndromic Deafness, Nonsyndromic Deafness
RS765923171 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS765923256 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
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