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
RS1131691443 KLHL41 Health Risk Likely pathogenic —
RS1131691444 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1131691450 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1131691452 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 13
RS1131691459 SCN8A Health Risk Likely pathogenic —
RS1131691460 TBX5 Health Risk Likely pathogenic —
RS1131691461 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1131691462 FRAS1 Health Risk Likely pathogenic —
RS1131691463 SHANK3 Health Risk Likely pathogenic —
RS1131691464 SHANK3 Health Risk Likely pathogenic —
RS1131691465 SCN1A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1131691466 SCN2A Health Risk Likely pathogenic —
RS1131691467 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1131691468 CHRDL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1131691469 SHANK3 Health Risk Likely pathogenic —
RS1131691471 KRT5 Health Risk Likely pathogenic —
RS1131691472 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1131691473 ITPR1 Health Risk Likely pathogenic —
RS1131691474 GLRA1 Health Risk Conflicting classifications of pathogenicity Hereditary hyperekplexia, Hereditary hyperekplexia
RS1131691475 KCNJ2 Health Risk Likely pathogenic Andersen Tawil syndrome, Short QT syndrome type 3
RS1131691476 STAT3 Health Risk Pathogenic/Likely pathogenic STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1
RS1131691477 SLC6A5 Health Risk Likely pathogenic —
RS1131691478 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1131691479 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1131691480 MECP2 Health Risk Likely pathogenic —
RS1131691481 GABRB3 Health Risk Pathogenic Epilepsy, childhood absence
RS1131691482 ELN Health Risk Likely pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1131691483 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1131691484 PCNT Health Risk Pathogenic/Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS1131691485 SHANK3 Health Risk Likely pathogenic —
RS1131691486 HPRT1 Health Risk Likely pathogenic —
RS1131691487 CLCN5 Health Risk Likely pathogenic —
RS1131691488 DBT Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS1131691489 KCNB1 Health Risk Likely pathogenic —
RS1131691490 SPINK5 Health Risk Pathogenic Netherton syndrome, Ichthyosis linearis circumflexa
RS1131691491 TCTN2 Health Risk Likely pathogenic —
RS1131691492 NDUFS8 Health Risk Likely pathogenic —
RS1131691498 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS1131691499 NF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1131691500 SCN1A Health Risk Likely pathogenic —
RS1131691503 KMT2A Health Risk Pathogenic/Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1131691506 DAG1 Health Risk Likely pathogenic —
RS1131691508 ARID1B Health Risk Likely pathogenic —
RS1131691509 PCDH19 Health Risk Pathogenic —
RS1131691511 EFTUD2 Health Risk Likely pathogenic —
RS1131691512 ANKRD11 Health Risk Conflicting classifications of pathogenicity Intellectual disability, ANKRD11-related disorder
RS1131691513 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS1131691514 MYH7 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1131691515 CHD2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS1131691516 KAT6A Health Risk Likely pathogenic —
RS1131691517 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS1131691518 KCNQ2 Health Risk Pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS1131691523 UBR1 Health Risk Likely pathogenic Johanson-Blizzard syndrome, Johanson-Blizzard syndrome
RS1131691524 UBR1 Health Risk Conflicting classifications of pathogenicity Johanson-Blizzard syndrome, Johanson-Blizzard syndrome
RS1131691526 VHL Health Risk Likely pathogenic —
RS1131691528 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1131691535 KDM6A Health Risk Likely pathogenic Cervical cancer, Cervical cancer
RS1131691536 SALL4 Health Risk Pathogenic —
RS1131691538 CCM2 Health Risk Pathogenic —
RS1131691539 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1131691540 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS1131691541 TP53 Health Risk Pathogenic —
RS1131691542 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1131691543 TTN Health Risk Pathogenic —
RS1131691545 SCN1A Health Risk Pathogenic —
RS1131691546 COL2A1 Health Risk Pathogenic —
RS1131691547 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1131691548 CHD8 Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS1131691549 PAX6 Health Risk Pathogenic —
RS1131691550 CRYGC Health Risk Pathogenic —
RS1131691551 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS1131691552 TBC1D24 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS1131691553 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1131691554 SOX9 Health Risk Pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS1131691555 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS1131691556 AP4M1 Health Risk Pathogenic Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50
RS1131691558 NPC1 Health Risk Pathogenic —
RS1131691559 COL7A1 Health Risk Pathogenic —
RS1131691560 ANOS1 Health Risk Pathogenic —
RS1131691561 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1131691562 MYH7 Health Risk Pathogenic —
RS1131691563 AMPD2 Health Risk Pathogenic —
RS1131691564 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1131691566 EDA Health Risk Pathogenic —
RS1131691567 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS1131691568 NR3C2 Health Risk Pathogenic —
RS1131691570 PAX6 Health Risk Pathogenic —
RS1131691571 DDX3X Health Risk Pathogenic DDX3X-related disorder, DDX3X-related disorder
RS1131691572 FRAS1 Health Risk Pathogenic —
RS1131691574 AMPD2 Health Risk Conflicting classifications of pathogenicity —
RS1131691575 POLG Health Risk Pathogenic Mitochondrial disease, Progressive sclerosing poliodystrophy
RS1131691576 GRIN1 Health Risk Likely pathogenic —
RS1131691577 MYH7 Health Risk Likely pathogenic —
RS1131691578 FBN1 Health Risk Likely pathogenic —
RS1131691579 HDAC8 Health Risk Likely pathogenic —
RS1131691580 ALDH7A1 Health Risk Likely pathogenic —
RS1131691581 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1131691583 IGF1R Health Risk Likely pathogenic IGF1R-related disorder, IGF1R-related disorder
RS1131691584 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS1131691585 CTNNB1 Health Risk Likely pathogenic —
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