SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS879255405 ALMS1 Health Risk Conflicting classifications of pathogenicity ALMS1-related disorder, ALMS1-related disorder
RS879255407 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS879255408 LARS2 Health Risk Likely pathogenic —
RS879255410 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS879255421 TBL1XR1 Health Risk Conflicting classifications of pathogenicity TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome
RS879255431 OTOA Health Risk Pathogenic/Likely pathogenic —
RS879255437 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255438 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255439 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS879255440 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255441 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255442 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255443 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255444 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255447 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255448 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255449 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255450 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255451 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255452 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255453 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255455 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255457 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255458 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255459 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255460 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255462 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255463 BRCA2 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS879255464 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255465 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255468 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255469 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255470 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255473 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255476 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255477 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255478 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255479 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255480 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS879255481 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255482 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255484 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255485 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255490 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255491 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255492 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255493 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255496 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS879255498 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS879255500 CNNM4 Health Risk Pathogenic Jalili syndrome, Jalili syndrome
RS879255502 SLC25A13 Health Risk Pathogenic/Likely pathogenic Citrin deficiency, Citrullinemia
RS879255504 SLC25A13 Health Risk Pathogenic Neonatal intrahepatic cholestasis due to citrin deficiency, Neonatal intrahepatic cholestasis due to citrin deficiency
RS879255505 ACAT1 Health Risk Pathogenic/Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS879255507 FECH Health Risk Pathogenic Protoporphyria, erythropoietic
RS879255508 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia 1, Glanzmann thrombasthenia
RS879255509 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
RS879255510 OPA1 Health Risk Pathogenic Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS879255511 OPA1 Health Risk Pathogenic Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS879255512 OPA1 Health Risk Pathogenic Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS879255513 OPA1 Health Risk Pathogenic Autosomal dominant optic atrophy classic form, Optic atrophy with or without deafness
RS879255514 ITGA2B Health Risk Conflicting classifications of pathogenicity ITGA2B-related disorder, Glanzmann thrombasthenia
RS879255515 DSTYK Health Risk Pathogenic Congenital anomalies of kidney and urinary tract 1, Congenital anomalies of kidney and urinary tract 1
RS879255516 CTCF Health Risk Pathogenic/Likely pathogenic CTCF-related neurodevelopmental disorder, CTCF-related syndromic intellectual disability
RS879255517 KATNB1 Health Risk Pathogenic Lissencephaly 6 with microcephaly, Lissencephaly 6 with microcephaly
RS879255518 KATNB1 Health Risk Pathogenic Lissencephaly 6 with microcephaly, Lissencephaly 6 with microcephaly
RS879255519 KATNB1 Health Risk Pathogenic Lissencephaly 6 with microcephaly, Lissencephaly 6 with microcephaly
RS879255520 HMCN1 Health Risk Pathogenic Age related macular degeneration 1, Age related macular degeneration 1
RS879255521 DSP Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS879255522 CIT Health Risk Pathogenic Autosomal recessive primary microcephaly, Microcephaly 17
RS879255523 CIT Health Risk Pathogenic Autosomal recessive primary microcephaly, Autosomal recessive primary microcephaly
RS879255524 CIT Health Risk Pathogenic Autosomal recessive primary microcephaly, Autosomal recessive primary microcephaly
RS879255527 MED12 Health Risk Pathogenic/Likely pathogenic FG syndrome 1, MED12-related intellectual disability syndrome
RS879255529 ARID2 Health Risk Pathogenic —
RS879255530 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS879255531 EHMT1 Health Risk Pathogenic/Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS879255535 ANK3 Health Risk Pathogenic Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
RS879255537 SALL4 Health Risk Pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS879255538 ADGRG2 Health Risk Pathogenic Congenital bilateral aplasia of vas deferens from CFTR mutation, Vas deferens
RS879255539 ADGRG2 Health Risk Pathogenic Congenital bilateral aplasia of vas deferens from CFTR mutation, Vas deferens
RS879255541 PNKP Health Risk Likely pathogenic —
RS879255542 FBXL4 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 13, Leigh syndrome
RS879255543 PIGA Health Risk Pathogenic —
RS879255545 EFNB1 Health Risk Pathogenic/Likely pathogenic Craniofrontonasal syndrome, Craniofrontonasal syndrome
RS879255547 RCBTB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, RCBTB1-related retinopathy
RS879255548 WNT7A Health Risk Pathogenic Schinzel phocomelia syndrome, Schinzel phocomelia syndrome
RS879255551 EDA Health Risk Pathogenic Tooth agenesis, selective
RS879255552 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS879255553 EDARADD Health Risk Pathogenic Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type
RS879255555 VAC14 Health Risk Pathogenic Striatonigral degeneration, childhood-onset
RS879255556 KLHL7 Health Risk Pathogenic PERCHING syndrome, Cold-induced sweating syndrome 1
RS879255557 KLHL7 Health Risk Pathogenic PERCHING syndrome, Cold-induced sweating syndrome 1
RS879255558 KLHL7 Health Risk Pathogenic PERCHING syndrome, Cold-induced sweating syndrome 1
RS879255560 OPA1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant optic atrophy classic form, Optic atrophy
RS879255561 MUSK Health Risk Pathogenic Congenital myasthenic syndrome 9, Congenital myasthenic syndrome 9
RS879255562 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4A
RS879255563 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4A
RS879255564 CHRND Health Risk Pathogenic Congenital myasthenic syndrome 3B, Lethal multiple pterygium syndrome
RS879255565 NUBPL Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 21
RS879255566 CAV1 Health Risk Pathogenic Pulmonary hypertension, primary
RS879255567 ALAS2 Health Risk Pathogenic X-linked erythropoietic protoporphyria, X-linked erythropoietic protoporphyria
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