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
RS749294509 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Renal cyst
RS749295454 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS749296628 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS749297006 WNT10A Health Risk Pathogenic Tooth agenesis, selective
RS749297332 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS749298208 PALB2 Health Risk Conflicting classifications of pathogenicity Pancreatic cancer, susceptibility to
RS749298368 GCK Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS749299119 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS749299357 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS749301742 TRPM1 Health Risk Pathogenic —
RS749301835 KIF5A Health Risk Conflicting classifications of pathogenicity Myoclonus, intractable
RS749302505 DNAI1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Kartagener syndrome
RS749303140 PKLR Health Risk Pathogenic —
RS749304523 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS749304751 SPATA7 Health Risk Pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS749305408 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, Hereditary cancer-predisposing syndrome
RS749305586 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Dilated cardiomyopathy 1G
RS749305814 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS749306669 CLCN7 Health Risk Pathogenic —
RS749307006 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS749307327 MPDZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749308557 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS749308804 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS749309384 EXPH5 Health Risk Pathogenic Epidermolysis bullosa simplex 4, localized or generalized intermediate
RS749309440 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS749309577 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS749309938 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinal dystrophy
RS74931017 DNAH9 Health Risk Conflicting classifications of pathogenicity DNAH9-related disorder, Inborn genetic diseases
RS749310275 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 4, Cardiovascular phenotype
RS749311817 PCNT Health Risk Pathogenic —
RS749312983 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS749313133 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749314857 CEP250 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy and hearing loss 2, Usher syndrome
RS749315029 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS749315126 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS749315193 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS749315456 CLCN7 Health Risk Conflicting classifications of pathogenicity —
RS749315686 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Late-infantile neuronal ceroid lipofuscinosis
RS749316923 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS749317169 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS749317646 SCN1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS749317721 CTNS Health Risk Pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS749318218 MED17 Health Risk Pathogenic —
RS749319044 PDHA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS749319334 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Congenital nephrotic syndrome
RS749319462 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS749319838 CHD5 Health Risk Conflicting classifications of pathogenicity —
RS749320057 MME Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2T, Spinocerebellar ataxia 43
RS749320093 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS749320240 SLC6A3 Health Risk Likely pathogenic —
RS749321625 OCA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749322788 PPP2R1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749322793 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
RS749323139 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS749323787 TREX1 Health Risk Conflicting classifications of pathogenicity TREX1-related disorder, Aicardi-Goutieres syndrome 1
RS749325776 SLC26A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS749326176 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS749326394 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Alternating hemiplegia of childhood 1
RS749326729 DOCK2 Health Risk Conflicting classifications of pathogenicity DOCK2 deficiency, See cases
RS749326764 NF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS749327297 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS749327820 CYFIP2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 65
RS749328536 ERCC1 Health Risk Likely pathogenic —
RS749329916 RTN4IP1 Health Risk Conflicting classifications of pathogenicity —
RS749330035 IFT140 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS749330118 TTC21B Health Risk Likely pathogenic Nephronophthisis 12, TTC21B-related disorder
RS749330477 D2HGDH Health Risk Pathogenic D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS749331348 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS749331637 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS749331668 ANO10 Health Risk Likely pathogenic —
RS749332339 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS749334082 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS749334182 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS749334262 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS749336034 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS749336515 SLC12A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34
RS749337189 SKIC3 Health Risk Pathogenic —
RS749337566 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS749337739 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS749338434 BRD4 Health Risk Conflicting classifications of pathogenicity —
RS749338526 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS749338996 ADGRG1 Health Risk Pathogenic —
RS749339594 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS749339741 STIL Health Risk Conflicting classifications of pathogenicity Microcephaly 7, primary
RS749339938 ALMS1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Alstrom syndrome
RS749339972 ATM Health Risk Conflicting classifications of pathogenicity —
RS749340193 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Malignant tumor of esophagus
RS749340561 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 11, Cardiovascular phenotype
RS749341977 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS749342175 PEX5 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 5, Peroxisome biogenesis disorder 2B
RS749343808 CPAP Health Risk Pathogenic/Likely pathogenic Microcephaly 6, primary
RS749343954 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS749345054 TWNK Health Risk Likely pathogenic —
RS749345540 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS749345577 CACNA1H Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Idiopathic generalized epilepsy
RS749346618 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS749346955 MEIS2 Health Risk Pathogenic Cardiac malformation, cleft lip/palate
RS749347602 HEXB Health Risk Conflicting classifications of pathogenicity Sandhoff disease, Inborn genetic diseases
RS749348004 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome
RS749349816 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
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