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
RS786205566 IFT122 Health Risk Likely pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS786205567 IFT122 Health Risk Pathogenic Cranioectodermal dysplasia, Cranioectodermal dysplasia 1
RS786205568 CC2D2A Health Risk Pathogenic Joubert syndrome 9, Joubert syndrome 9
RS786205569 SLC4A4 Health Risk Likely pathogenic —
RS786205570 FRAS1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS786205571 ANK2 Health Risk Likely pathogenic —
RS786205572 IL7R Health Risk Likely pathogenic —
RS786205573 ERCC8 Health Risk Likely pathogenic —
RS786205574 HSD17B4 Health Risk Likely pathogenic Perrault syndrome 1, Perrault syndrome 1
RS786205575 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS786205576 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS786205578 COL11A2 Health Risk Likely pathogenic —
RS786205579 PRPH2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, PRPH2-related disorder
RS786205580 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS786205581 CUL7 Health Risk Likely pathogenic —
RS786205582 PKHD1 Health Risk Likely pathogenic —
RS786205583 MED23 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 18
RS786205584 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS786205585 ACTB Health Risk Pathogenic/Likely pathogenic Baraitser-Winter syndrome 1, Neurodevelopmental delay
RS786205586 PEX1 Health Risk Likely pathogenic —
RS786205587 COL1A2 Health Risk Likely pathogenic —
RS786205588 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS786205589 RP1 Health Risk Pathogenic/Likely pathogenic —
RS786205590 GDAP1 Health Risk Likely pathogenic —
RS786205591 GDAP1 Health Risk Likely pathogenic —
RS786205592 TMEM67 Health Risk Likely pathogenic —
RS786205593 EXT1 Health Risk Pathogenic/Likely pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS786205594 TNFRSF11B Health Risk Likely pathogenic —
RS786205595 TRAPPC9 Health Risk Pathogenic Intellectual disability, autosomal recessive 13
RS786205596 DOCK8 Health Risk Likely pathogenic —
RS786205597 FKTN Health Risk Conflicting classifications of pathogenicity Myopathy caused by variation in FKTN, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS786205598 STXBP1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 4
RS786205599 NOTCH1 Health Risk Likely pathogenic —
RS786205600 NOTCH1 Health Risk Likely pathogenic —
RS786205601 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS786205602 EHMT1 Health Risk Likely pathogenic —
RS786205604 CHM Health Risk Pathogenic/Likely pathogenic —
RS786205605 PLP1 Health Risk Likely pathogenic Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
RS786205606 CD40LG Health Risk Likely pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS786205607 CD40LG Health Risk Likely pathogenic —
RS786205608 TMEM67 Health Risk Pathogenic/Likely pathogenic 6 conditions, 6 conditions
RS786205609 ASPM Health Risk Likely pathogenic —
RS786205610 CRB1 Health Risk Likely pathogenic Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS786205611 OPTN Health Risk Pathogenic/Likely pathogenic Glaucoma 1, open angle
RS786205613 CDHR1 Health Risk Likely pathogenic —
RS786205614 ALDH18A1 Health Risk Likely pathogenic —
RS786205615 RAG1 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS786205616 RAG2 Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS786205617 SPTBN2 Health Risk Likely pathogenic —
RS786205618 HEPACAM Health Risk Likely pathogenic —
RS786205619 GNS Health Risk Likely pathogenic —
RS786205620 CEP290 Health Risk Likely pathogenic —
RS786205622 TCTN2 Health Risk Likely pathogenic —
RS786205623 RPGRIP1 Health Risk Likely pathogenic Leber congenital amaurosis 6, Leber congenital amaurosis 6
RS786205624 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome 3, Weill-Marchesani syndrome 3
RS786205625 POMT2 Health Risk Likely pathogenic —
RS786205626 RLBP1 Health Risk Pathogenic/Likely pathogenic Bothnia retinal dystrophy, Retinal dystrophy
RS786205627 HSD3B7 Health Risk Pathogenic Congenital bile acid synthesis defect 1, Congenital bile acid synthesis defect 1
RS786205628 CRYBA1 Health Risk Conflicting classifications of pathogenicity Cataract 10 multiple types, Cataract 10 multiple types
RS786205630 CRX Health Risk Likely pathogenic Leber congenital amaurosis 7, Autosomal dominant retinitis pigmentosa
RS786205632 DYSF Health Risk Likely pathogenic —
RS786205633 ALMS1 Health Risk Likely pathogenic —
RS786205635 SCN2A Health Risk Likely pathogenic —
RS786205636 BBS5 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 5
RS786205637 BBS5 Health Risk Likely pathogenic —
RS786205638 DCAF17 Health Risk Likely pathogenic —
RS786205639 TTN Health Risk Likely pathogenic —
RS786205640 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS786205641 MLPH Health Risk Pathogenic Griscelli syndrome type 3, Griscelli syndrome type 3
RS786205642 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS786205643 LAMB2 Health Risk Likely pathogenic —
RS786205644 LRAT Health Risk Likely pathogenic Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS786205645 NEK1 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Short-rib thoracic dysplasia 6 with or without polydactyly
RS786205647 LIFR Health Risk Likely pathogenic Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1
RS786205648 NSD1 Health Risk Likely pathogenic —
RS786205649 SYNGAP1 Health Risk Likely pathogenic —
RS786205650 TULP1 Health Risk Likely pathogenic —
RS786205651 CUL7 Health Risk Pathogenic/Likely pathogenic 3M syndrome 1, 3M syndrome 1
RS786205652 EYS Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Retinal dystrophy
RS786205653 LCA5 Health Risk Likely pathogenic —
RS786205654 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS786205655 PEX1 Health Risk Pathogenic/Likely pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS786205656 PEX1 Health Risk Pathogenic/Likely pathogenic Zellweger spectrum disorders, Heimler syndrome 1
RS786205657 RELN Health Risk Likely pathogenic —
RS786205658 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS786205659 TJP2 Health Risk Likely pathogenic —
RS786205660 CDK5RAP2 Health Risk Likely pathogenic —
RS786205661 DRAM2 Health Risk Pathogenic Retinal dystrophy, Cone-rod dystrophy 21
RS786205662 DRAM2 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS786205663 DRAM2 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS786205664 DRAM2 Health Risk Pathogenic Retinal dystrophy, Cone-rod dystrophy 21
RS786205665 DRAM2 Health Risk Pathogenic Retinal dystrophy, Cone-rod dystrophy 21
RS786205666 NDUFS1 Health Risk Likely pathogenic MELAS syndrome, MELAS syndrome
RS786205667 PIGC Health Risk Conflicting classifications of pathogenicity Non-immune hydrops fetalis, Glycosylphosphatidylinositol biosynthesis defect 16
RS786205669 THSD1 Health Risk Likely pathogenic Non-immune hydrops fetalis, Lymphatic malformation 13
RS786205670 CTSA Health Risk Likely pathogenic Non-immune hydrops fetalis, Combined deficiency of sialidase AND beta galactosidase
RS786205671 GUSB Health Risk Likely pathogenic Non-immune hydrops fetalis, Non-immune hydrops fetalis
RS786205672 FZD6 Health Risk Conflicting classifications of pathogenicity Nonsyndromic congenital nail disorder 1, Non-immune hydrops fetalis
RS786205673 GUSB Health Risk Conflicting classifications of pathogenicity Non-immune hydrops fetalis, Mucopolysaccharidosis type 7
RS786205674 GUSB Health Risk Conflicting classifications of pathogenicity Non-immune hydrops fetalis, Non-immune hydrops fetalis
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