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
RS786205461 ANKRD1 Health Risk Conflicting classifications of pathogenicity ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype
RS786205462 PDE6C Health Risk Conflicting classifications of pathogenicity —
RS786205463 PDE6C Health Risk Likely pathogenic —
RS786205464 HPS1 Health Risk Pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS786205465 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS786205467 PAX6 Health Risk Likely pathogenic —
RS786205468 RAG2 Health Risk Likely pathogenic —
RS786205469 RAG2 Health Risk Likely pathogenic —
RS786205470 MYBPC3 Health Risk Likely pathogenic —
RS786205471 MFRP Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS786205472 MFRP Health Risk Likely pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS786205473 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS786205474 AICDA Health Risk Pathogenic/Likely pathogenic Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
RS786205475 ABCC9 Health Risk Likely pathogenic —
RS786205476 PKP2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS786205477 COL2A1 Health Risk Likely pathogenic —
RS786205478 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS786205479 TUBA1A Health Risk Likely pathogenic Tubulinopathy, Tubulinopathy
RS786205480 KRT83 Health Risk Likely pathogenic —
RS786205481 CPAP Health Risk Likely pathogenic —
RS786205482 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS786205483 RNASEH2B Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 1
RS786205484 MYH6 Health Risk Conflicting classifications of pathogenicity —
RS786205485 TGM1 Health Risk Likely pathogenic —
RS786205486 FOXG1 Health Risk Pathogenic Rett syndrome, FOXG1 disorder
RS786205487 ATL1 Health Risk Pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS786205488 SYNE2 Health Risk Likely pathogenic —
RS786205489 CCDC88C Health Risk Likely pathogenic —
RS786205490 CAPN3 Health Risk Likely pathogenic —
RS786205491 CAPN3 Health Risk Likely pathogenic —
RS786205492 UBR1 Health Risk Likely pathogenic —
RS786205493 NR2E3 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 37, Enhanced S-cone syndrome
RS786205494 RLBP1 Health Risk Likely pathogenic —
RS786205495 CREBBP Health Risk Likely pathogenic CREBBP-related disorder, CREBBP-related disorder
RS786205496 ABAT Health Risk Likely pathogenic —
RS786205497 MMP2 Health Risk Conflicting classifications of pathogenicity —
RS786205498 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS786205499 GUCY2D Health Risk Likely pathogenic —
RS786205500 GUCY2D Health Risk Likely pathogenic —
RS786205501 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS786205502 PEX12 Health Risk Likely pathogenic —
RS786205503 STAT3 Health Risk Likely pathogenic —
RS786205504 COL1A1 Health Risk Likely pathogenic —
RS786205505 COL1A1 Health Risk Likely pathogenic —
RS786205506 COL1A1 Health Risk Likely pathogenic —
RS786205507 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS786205508 MKS1 Health Risk Pathogenic Meckel-Gruber syndrome, Meckel-Gruber syndrome
RS786205509 RGS9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS786205510 WDR45B Health Risk Likely pathogenic Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
RS786205511 DYM Health Risk Pathogenic Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome
RS786205512 DYM Health Risk Likely pathogenic —
RS786205513 DYM Health Risk Likely pathogenic —
RS786205514 SMAD4 Health Risk Likely pathogenic —
RS786205515 NFIX Health Risk Pathogenic/Likely pathogenic —
RS786205516 DDX39A Health Risk Likely pathogenic —
RS786205517 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS786205518 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS786205519 DLL3 Health Risk Pathogenic/Likely pathogenic Spondylocostal dysostosis 1, autosomal recessive
RS786205521 CRX Health Risk Conflicting classifications of pathogenicity Autosomal dominant retinitis pigmentosa, Leber congenital amaurosis 7
RS786205522 SOS1 Health Risk Likely pathogenic —
RS786205523 LRPPRC Health Risk Likely pathogenic —
RS786205524 DYSF Health Risk Likely pathogenic —
RS786205525 DYSF Health Risk Likely pathogenic —
RS786205526 ALMS1 Health Risk Likely pathogenic —
RS786205527 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS786205528 ADRA2B Health Risk Conflicting classifications of pathogenicity Epilepsy, familial adult myoclonic
RS786205529 SNRNP200 Health Risk Conflicting classifications of pathogenicity Autosomal dominant retinitis pigmentosa, Retinal dystrophy
RS786205530 CNNM4 Health Risk Likely pathogenic —
RS786205531 CNGA3 Health Risk Likely pathogenic —
RS786205532 CNGA3 Health Risk Pathogenic Achromatopsia 2, Achromatopsia 2
RS786205533 MERTK Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 38
RS786205534 MERTK Health Risk Pathogenic Retinitis pigmentosa 38, Autosomal recessive retinitis pigmentosa
RS786205535 MERTK Health Risk Likely pathogenic Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 38
RS786205536 TTN Health Risk Likely pathogenic —
RS786205538 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS786205539 TTN Health Risk Conflicting classifications of pathogenicity TTN-related disorder, TTN-related disorder
RS786205541 TTN Health Risk Likely pathogenic —
RS786205542 TTN Health Risk Likely pathogenic —
RS786205543 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS786205544 TTN Health Risk Likely pathogenic —
RS786205545 CERKL Health Risk Likely pathogenic Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 26
RS786205546 CRYGD Health Risk Likely pathogenic CRYGD-related disorder, CRYGD-related disorder
RS786205547 NHEJ1 Health Risk Likely pathogenic Cernunnos-XLF deficiency, Cernunnos-XLF deficiency
RS786205548 COL4A4 Health Risk Likely pathogenic —
RS786205549 CHRNG Health Risk Likely pathogenic —
RS786205550 KCNJ13 Health Risk Pathogenic Leber congenital amaurosis 16, Leber congenital amaurosis 16
RS786205551 MLPH Health Risk Pathogenic/Likely pathogenic Griscelli syndrome type 3, Griscelli syndrome type 3
RS786205552 ASXL1 Health Risk Likely pathogenic —
RS786205553 VAPB Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy
RS786205554 COL18A1 Health Risk Pathogenic/Likely pathogenic —
RS786205555 COL6A1 Health Risk Likely pathogenic —
RS786205556 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS786205557 EP300 Health Risk Likely pathogenic —
RS786205558 UPK3A Health Risk Likely pathogenic —
RS786205559 TYMP Health Risk Conflicting classifications of pathogenicity —
RS786205560 LARS2 Health Risk Pathogenic/Likely pathogenic Perrault syndrome, Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
RS786205561 COL7A1 Health Risk Likely pathogenic —
RS786205562 LAMB2 Health Risk Likely pathogenic —
RS786205563 ARL13B Health Risk Likely pathogenic —
RS786205564 IMPG2 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
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