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
RS1057521951 FBN2 Health Risk Likely pathogenic —
RS1057521952 OCRL Health Risk Likely pathogenic —
RS1057521957 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1057521967 SLC2A1 Health Risk Pathogenic/Likely pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1057521972 DSPP Health Risk Likely pathogenic —
RS1057521979 GABRB2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS1057521986 TUBA1A Health Risk Pathogenic/Likely pathogenic Tubulinopathy, TUBA1A-associated tubulinopathy
RS1057521987 ATRX Health Risk Likely pathogenic Inborn genetic diseases, Neonatal hypotonia
RS1057521988 MED12 Health Risk Likely pathogenic —
RS1057521989 HCN1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 24
RS1057521990 GJC2 Health Risk Likely pathogenic —
RS1057521991 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1057521992 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS1057521993 PDHA1 Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS1057522002 EFTUD2 Health Risk Likely pathogenic —
RS1057522004 UMOD Health Risk Likely pathogenic UMOD-related disorder, UMOD-related disorder
RS1057522005 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1057522013 POMGNT1 Health Risk Pathogenic —
RS1057522021 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1057522023 KMT2C Health Risk Likely pathogenic —
RS1057522024 USP9X Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 99
RS1057522038 MECP2 Health Risk Likely pathogenic —
RS1057522039 LAS1L Health Risk Likely pathogenic —
RS1057522040 SMC1A Health Risk Pathogenic —
RS1057522042 COL4A5 Health Risk Pathogenic/Likely pathogenic Thyroid cancer, nonmedullary
RS1057522045 CERT1 Health Risk Likely pathogenic —
RS1057522050 RARS2 Health Risk Likely pathogenic —
RS1057522053 COL6A1 Health Risk Likely pathogenic —
RS1057522054 ACTG2 Health Risk Likely pathogenic —
RS1057522105 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1057522108 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1057522116 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS1057522119 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1057522127 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1057522128 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group C
RS1057522150 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1057522158 CHD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1057522167 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1057522183 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS1057522186 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1057522195 AFG3L2 Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Hyperkinetic movements
RS1057522203 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1057522236 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS1057522238 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1057522248 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, FG syndrome
RS1057522256 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1057522266 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1057522270 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1057522272 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1057522275 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1057522285 PTEN Health Risk Likely pathogenic Neoplasm, Neoplasm
RS1057522286 ANK2 Health Risk Conflicting classifications of pathogenicity —
RS1057522287 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1057522317 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS1057522318 NR2F1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1057522322 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS1057522325 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1057522327 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1057522347 ARHGEF9 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 8
RS1057522361 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Inborn genetic diseases
RS1057522369 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1057522382 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1057522383 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1057522400 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1057522403 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS1057522420 CACNA1A Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 6
RS1057522421 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS1057522448 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS1057522454 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1057522462 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS1057522488 ARX Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked
RS1057522489 ATP8A2 Health Risk Likely pathogenic —
RS1057522496 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1057522511 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1057522520 B9D1 Health Risk Likely pathogenic —
RS1057522521 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1057522534 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS1057522537 MBD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS1057522541 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS1057522577 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1057522580 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS1057522587 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Inborn genetic diseases
RS1057522592 NEB Health Risk Conflicting classifications of pathogenicity —
RS1057522606 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS1057522610 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS1057522660 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1057522661 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS1057522671 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1057522688 SYNE1 Health Risk Conflicting classifications of pathogenicity —
RS1057522695 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1057522718 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1057522719 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1057522764 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1057522775 MITF Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS1057522776 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1057522793 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1057522800 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1057522803 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, GRIN2A-related complex neurodevelopmental disorder
RS1057522817 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1057522823 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
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