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
RS797044439 CCN6 Health Risk Pathogenic Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
RS797044440 CCN6 Health Risk Pathogenic Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
RS797044441 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia 1, Autosomal dominant hypocalcemia 1
RS797044442 PHKB Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IXb, Glycogen phosphorylase kinase deficiency
RS797044444 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS797044445 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS797044446 PLOD1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS797044447 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS797044448 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS797044449 GH1 Health Risk Pathogenic Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB
RS797044450 GH1 Health Risk Pathogenic Autosomal dominant isolated somatotropin deficiency, Autosomal dominant isolated somatotropin deficiency
RS797044451 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation syndrome
RS797044452 GNRHR Health Risk Pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia
RS797044453 F13B Health Risk Pathogenic Factor XIII, b subunit
RS797044454 TYMP Health Risk Pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial neurogastrointestinal encephalomyopathy
RS797044455 TYMP Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS797044456 COL6A1 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS797044457 COL6A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 1A, Ullrich congenital muscular dystrophy 1A
RS797044458 COL6A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 1A, Ullrich congenital muscular dystrophy 1A
RS797044459 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, cardiac valvular type
RS797044460 AKR1C2 Health Risk Pathogenic 46, XY disorder of sex development due to testicular 17
RS797044461 ORC4 Health Risk Pathogenic Meier-Gorlin syndrome 2, Meier-Gorlin syndrome 2
RS797044462 FAM20C Health Risk Pathogenic Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia
RS797044463 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS797044464 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS797044465 KIF7 Health Risk Pathogenic Joubert syndrome 12, Joubert syndrome 12
RS797044466 KIF7 Health Risk Pathogenic JOUBERT SYNDROME 12/15, DIGENIC
RS797044467 DPM2 Health Risk Pathogenic Congenital muscular dystrophy with intellectual disability and severe epilepsy, Congenital muscular dystrophy with intellectual disability and severe epilepsy
RS797044468 INPPL1 Health Risk Pathogenic Opsismodysplasia, Opsismodysplasia
RS797044469 INPPL1 Health Risk Pathogenic Opsismodysplasia, Opsismodysplasia
RS797044470 INPPL1 Health Risk Pathogenic Opsismodysplasia, Opsismodysplasia
RS797044471 LTBP4 Health Risk Pathogenic Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS797044477 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS797044479 SERPINB7 Health Risk Pathogenic Palmoplantar keratoderma, Nagashima type
RS797044481 CDKN1B Health Risk Likely pathogenic Neuroendocrine neoplasm, Neuroendocrine neoplasm
RS797044482 CDKN1B Health Risk Pathogenic Neuroendocrine neoplasm, Hereditary cancer-predisposing syndrome
RS797044483 CDKN1B Health Risk Likely pathogenic Neuroendocrine neoplasm, Neuroendocrine neoplasm
RS797044484 TP63 Health Risk Pathogenic Ectrodactyly, ectodermal dysplasia
RS797044487 LMNA Health Risk Pathogenic Hutchinson-Gilford progeria syndrome, atypical
RS797044488 LMNA Health Risk Conflicting classifications of pathogenicity Hutchinson-Gilford syndrome, Hutchinson-Gilford progeria syndrome
RS797044489 MYO7A Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS797044490 MYO7A Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS797044491 MYO7A Health Risk Likely pathogenic Rare genetic deafness, Hearing loss
RS797044492 MYO7A Health Risk Likely pathogenic Usher syndrome, Usher syndrome type 1
RS797044495 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS797044496 FLNA Health Risk Pathogenic —
RS797044497 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS797044498 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS797044499 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS797044500 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS797044502 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS797044503 MTM1 Health Risk Pathogenic —
RS797044504 MTM1 Health Risk Pathogenic —
RS797044505 PGK1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS797044507 RP2 Health Risk Pathogenic —
RS797044508 SLC9A6 Health Risk Pathogenic Christianson syndrome, Thyroid cancer
RS797044509 SALL4 Health Risk Pathogenic —
RS797044510 MYO7A Health Risk Pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 2
RS797044511 MYO7A Health Risk Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 2
RS797044512 MYO7A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal dominant nonsyndromic hearing loss 11
RS797044513 MYO7A Health Risk Pathogenic Rare genetic deafness, Retinal dystrophy
RS797044514 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome, Usher syndrome
RS797044516 MYO7A Health Risk Pathogenic Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 2
RS797044518 MYO7A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Usher syndrome type 1
RS797044519 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS797044520 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related disorder
RS797044521 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, Complex neurodevelopmental disorder
RS797044522 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS797044523 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, Inborn genetic diseases
RS797044524 DYRK1A Health Risk Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS797044525 DYRK1A Health Risk Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS797044526 DYRK1A Health Risk Pathogenic/Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS797044527 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS797044528 FOXL2 Health Risk Pathogenic BLEPHAROPHIMOSIS, PTOSIS
RS797044529 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS797044531 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS797044532 FOXL2 Health Risk Pathogenic BLEPHAROPHIMOSIS, PTOSIS
RS797044534 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS797044540 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS797044542 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS797044544 KCNT1 Health Risk Pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 5, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS797044545 DEPDC5 Health Risk Pathogenic Epilepsy, familial focal
RS797044546 DEPDC5 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS797044547 TBC1D24 Health Risk Pathogenic DOORS syndrome, DOORS syndrome
RS797044548 TBC1D24 Health Risk Pathogenic DOORS syndrome, DOORS syndrome
RS797044549 TBC1D24 Health Risk Pathogenic DOORS syndrome, DOORS syndrome
RS797044552 DCC Health Risk Pathogenic Mirror movements 1, Mirror movements 1
RS797044553 DCC Health Risk Pathogenic Mirror movements 1, Mirror movements 1
RS797044556 DCC Health Risk Pathogenic Mirror movements 1, Mirror movements 1
RS797044558 ABCB7 Health Risk Likely pathogenic Spinocerebellar ataxia, X-linked
RS797044559 FKBP10 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS797044561 RP2 Health Risk Pathogenic Retinitis pigmentosa, X-linked retinitis pigmentosa
RS797044563 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS797044565 KMT2A Health Risk Pathogenic/Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS797044566 ATN1 Health Risk Likely pathogenic Congenital hypotonia, epilepsy
RS797044567 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS797044568 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS797044569 GFAP Health Risk Likely pathogenic Alexander disease, Alexander disease
RS797044570 GFAP Health Risk Likely pathogenic Alexander disease, Alexander disease
RS797044571 GFAP Health Risk Pathogenic —
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