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
RS752839330 LOX Health Risk Conflicting classifications of pathogenicity Congenital aneurysm of ascending aorta, Acute aortic dissection
RS752839367 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS752839497 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS752839979 PUS7 Health Risk Pathogenic Intellectual developmental disorder with abnormal behavior, microcephaly
RS752840373 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS752840782 CDSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752841251 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS752842243 FLNB Health Risk Conflicting classifications of pathogenicity —
RS752842357 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Timothy syndrome
RS752843169 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Proteinuria
RS752843742 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS752844520 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752844723 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS752845880 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS752846043 SUFU Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Gorlin syndrome
RS752846235 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS752846577 PDE6B Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS752846614 POLE Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS752847512 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS752848213 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS752848452 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752848496 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS752848974 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS752849270 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS752849283 COL17A1 Health Risk Likely pathogenic —
RS752850439 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752850582 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS752850609 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS752850659 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS752850661 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS752851284 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS752851745 TENM1 Health Risk Conflicting classifications of pathogenicity —
RS752852871 TSFM Health Risk Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS752854030 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS752856716 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS752857170 GRIN2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752857771 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS752857820 REV3L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752858024 MTRR Health Risk Pathogenic/Likely pathogenic Methylcobalamin deficiency type cblE, Neural tube defects
RS752858201 NEDD4L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752858869 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS752858908 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS752859634 ZFYVE26 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS752860014 LAMA3 Health Risk Pathogenic —
RS752863502 VPS51 Health Risk Pathogenic Pontocerebellar hypoplasia, type 13
RS752864098 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS752864343 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS752864722 NDUFAF3 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, Mitochondrial complex I deficiency
RS752865337 AXIN2 Health Risk Pathogenic/Likely pathogenic Oligodontia-cancer predisposition syndrome, AXIN2-related disorder
RS752865665 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS752866323 GLUD1 Health Risk Conflicting classifications of pathogenicity Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome
RS752866557 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS752866643 MMAB Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
RS752866783 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS752868357 DYM Health Risk Pathogenic Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome
RS752868449 SEC63 Health Risk Pathogenic/Likely pathogenic Polycystic liver disease 2, Polycystic liver disease 2
RS752869470 SLC4A10 Health Risk Likely pathogenic —
RS752869602 TUBGCP6 Health Risk Pathogenic Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1
RS752870879 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS752871814 MECR Health Risk Pathogenic —
RS752871893 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS752872595 LAMA1 Health Risk Conflicting classifications of pathogenicity —
RS752873857 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS752874220 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, 6 conditions
RS752874408 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS752874782 FAT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752874974 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS752875047 RIMS1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 7, Retinal dystrophy
RS752875933 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS752876192 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Breast and/or ovarian cancer
RS752877550 TUBGCP6 Health Risk Likely pathogenic —
RS752878085 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS752878896 NEK1 Health Risk Likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS752879150 NF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS752879780 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS752880854 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Familial cancer of breast
RS752880958 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PIEZO1-related disorder
RS752881057 OTOF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752881223 AXIN2 Health Risk Pathogenic Non-syndromic oligodontia, Non-syndromic oligodontia
RS752881264 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS752881588 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS752883472 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS752883545 NR2E3 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS752884270 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS752886203 HNF1A Health Risk Pathogenic Maturity-onset diabetes of the young type 3, Monogenic diabetes
RS752886421 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS752886472 CD36 Health Risk Pathogenic —
RS752886480 PTCH2 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS752886993 ITPR1 Health Risk Conflicting classifications of pathogenicity —
RS75288720 TSEN2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 2B, Pontoneocerebellar hypoplasia
RS752887801 BLTP1 Health Risk Pathogenic Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome
RS752887988 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS752889177 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS752889346 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS752890414 ADA2 Health Risk Likely pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS752891084 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS752891726 FBN1 Health Risk Likely pathogenic —
RS752892771 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS752892850 PPP1R12A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752893483 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
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