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
RS869320648 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS869320649 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS869320651 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS869320652 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS869320653 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS869320654 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS869320655 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS869320656 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS869320657 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS869320658 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, Combined immunodeficiency
RS869320659 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, Combined immunodeficiency
RS869320660 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS869320661 ATP1A3 Health Risk Pathogenic Dystonia 12, ATP1A3-related disorder
RS869320664 TIMM8A Health Risk Pathogenic Deafness dystonia syndrome, Deafness dystonia syndrome
RS869320665 TIMM8A Health Risk Pathogenic Deafness dystonia syndrome, Deafness dystonia syndrome
RS869320666 TIMM8A Health Risk Pathogenic Deafness dystonia syndrome, Deafness dystonia syndrome
RS869320667 TIMM8A Health Risk Pathogenic Deafness dystonia syndrome, Deafness dystonia syndrome
RS869320668 GATA2 Health Risk Likely pathogenic Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome
RS869320671 LAMB3 Health Risk Pathogenic Amelogenesis imperfecta type 1A, Amelogenesis imperfecta type 1A
RS869320672 ALDH6A1 Health Risk Pathogenic Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency
RS869320673 APPL1 Health Risk Pathogenic Maturity-onset diabetes of the young type 14, Maturity-onset diabetes of the young type 14
RS869320674 WHRN Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 31, Autosomal recessive nonsyndromic hearing loss 31
RS869320675 MYT1L Health Risk Pathogenic Intellectual disability, autosomal dominant 39
RS869320676 MYT1L Health Risk Pathogenic Intellectual disability, autosomal dominant 39
RS869320677 XRCC4 Health Risk Pathogenic/Likely pathogenic Short stature, microcephaly
RS869320678 XRCC4 Health Risk Pathogenic Short stature, microcephaly
RS869320679 TBX18 Health Risk Pathogenic/Likely pathogenic Congenital anomalies of kidney and urinary tract 2, Congenital anomaly of kidney and urinary tract
RS869320680 DAG1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
RS869320681 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS869320682 CUL4B Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability Cabezas type, CUL4B-related disorder
RS869320683 RSPH4A Health Risk Pathogenic Primary ciliary dyskinesia 11, Kartagener syndrome
RS869320684 FANCL Health Risk Pathogenic Fanconi anemia complementation group L, VATER association
RS869320685 FANCL Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group L, VACTERL association
RS869320686 LZTR1 Health Risk Likely pathogenic Noonan syndrome 10, LZTR1-related schwannomatosis
RS869320687 SOS2 Health Risk Likely pathogenic Noonan syndrome 9, Noonan syndrome
RS869320688 NFKB1 Health Risk Likely pathogenic Immunodeficiency, common variable
RS869320689 NFKB1 Health Risk Likely pathogenic Immunodeficiency, common variable
RS869320690 ALDH18A1 Health Risk Pathogenic Autosomal recessive complex spastic paraplegia type 9B, Autosomal recessive complex spastic paraplegia type 9B
RS869320691 PPP2R5D Health Risk Pathogenic/Likely pathogenic Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1
RS869320692 SLC9A3 Health Risk Pathogenic Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8
RS869320693 TANGO2 Health Risk Pathogenic/Likely pathogenic Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
RS869320694 FGFR1 Health Risk Pathogenic Encephalocraniocutaneous lipomatosis, Pilomyxoid astrocytoma
RS869320695 NUP93 Health Risk Pathogenic Nephrotic syndrome, type 12
RS869320696 CTNNA1 Health Risk Pathogenic Patterned macular dystrophy 2, Patterned macular dystrophy 2
RS869320697 CTNNA1 Health Risk Pathogenic Patterned macular dystrophy 2, Patterned macular dystrophy 2
RS869320698 GBE1 Health Risk Likely pathogenic Adult polyglucosan body neuropathy, Adult polyglucosan body disease
RS869320700 DNAJB6 Health Risk Pathogenic Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
RS869320701 DNAJB6 Health Risk Pathogenic Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
RS869320702 DNAJB6 Health Risk Pathogenic Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
RS869320703 GFM2 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 39, Combined oxidative phosphorylation deficiency 39
RS869320704 GFM2 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 39, Combined oxidative phosphorylation deficiency 39
RS869320705 RPS6KA3 Health Risk Pathogenic Coffin-Lowry syndrome, Intellectual disability
RS869320706 MET Health Risk risk factor Osteofibrous dysplasia, Osteofibrous dysplasia
RS869320708 TMLHE Health Risk risk factor Epsilon-trimethyllysine hydroxylase deficiency, Epsilon-trimethyllysine hydroxylase deficiency
RS869320709 GUCA1A;GUCA1ANB-GUCA1A Health Risk Pathogenic/Likely pathogenic Cone dystrophy 3, Retinal dystrophy
RS869320710 GUCA1ANB-GUCA1A;GUCA1A Health Risk Conflicting classifications of pathogenicity Cone dystrophy 3, Cone-rod dystrophy 14
RS869320712 WDR73 Health Risk Conflicting classifications of pathogenicity Galloway-Mowat syndrome 1, WDR73-related disorder
RS869320713 ZMYND11 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 30
RS869320714 SLFN14 Health Risk Pathogenic/Likely pathogenic Platelet-type bleeding disorder 20, Thrombocytopenia
RS869320715 SLFN14 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 20, Abnormal bleeding
RS869320716 SLFN14 Health Risk Likely pathogenic Platelet-type bleeding disorder 20, Inborn genetic diseases
RS869320717 ALX4 Health Risk Pathogenic Frontonasal dysplasia with alopecia and genital anomaly, Frontonasal dysplasia with alopecia and genital anomaly
RS869320719 SLC25A38 Health Risk Pathogenic/Likely pathogenic Sideroblastic anemia 2, SLC25A38-related disorder
RS869320720 SLC4A11 Health Risk Pathogenic Congenital hereditary endothelial dystrophy of cornea, Congenital hereditary endothelial dystrophy of cornea
RS869320721 SLC4A11 Health Risk Pathogenic/Likely pathogenic Corneal dystrophy-perceptive deafness syndrome, Congenital hereditary endothelial dystrophy of cornea
RS869320722 SLC4A11 Health Risk Pathogenic Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy-perceptive deafness syndrome
RS869320723 GLIS3 Health Risk Pathogenic Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism
RS869320724 TMPRSS6 Health Risk Pathogenic Iron-refractory iron deficiency anemia, Iron-refractory iron deficiency anemia
RS869320725 SIL1 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS869320726 RP1 Health Risk Pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa
RS869320727 RP1 Health Risk Pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS869320728 RP1 Health Risk Pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS869320729 CASR Health Risk Pathogenic Neonatal severe primary hyperparathyroidism, Neonatal severe primary hyperparathyroidism
RS869320730 COMP Health Risk Pathogenic Multiple epiphyseal dysplasia type 1, Multiple epiphyseal dysplasia type 1
RS869320731 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS869320732 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS869320733 TIMM8A Health Risk Pathogenic Deafness dystonia syndrome, Deafness dystonia syndrome
RS869320734 GATA2 Health Risk Likely pathogenic Monocytopenia with susceptibility to infections, GATA2 deficiency with susceptibility to MDS/AML
RS869320735 GATA2 Health Risk Pathogenic Monocytopenia with susceptibility to infections, GATA2 deficiency with susceptibility to MDS/AML
RS869320736 SRD5A3 Health Risk Pathogenic Kahrizi syndrome, Kahrizi syndrome
RS869320737 BOLA3 Health Risk Pathogenic Multiple mitochondrial dysfunctions syndrome 2, Multiple mitochondrial dysfunctions syndrome 2
RS869320738 PNPLA2 Health Risk Pathogenic Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS869320739 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS869320740 TTN Health Risk Pathogenic/Likely pathogenic Myopathy, myofibrillar
RS869320741 TTN Health Risk Pathogenic Myopathy, myofibrillar
RS869320742 TTN Health Risk Pathogenic/Likely pathogenic Myopathy, myofibrillar
RS869320743 TTN Health Risk Pathogenic Myopathy, myofibrillar
RS869320744 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS869320745 TYK2 Health Risk Pathogenic Immunodeficiency 35, Immunodeficiency 35
RS869320746 GTPBP3 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23
RS869320748 SNX14 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20
RS869320750 TWIST2 Health Risk Pathogenic Barber-Say syndrome, Barber-Say syndrome
RS869320751 ATF6 Health Risk Pathogenic Achromatopsia 7, Achromatopsia 7
RS869320752 FKBP10 Health Risk Pathogenic Bruck syndrome 1, Osteogenesis imperfecta
RS869320753 MCM8 Health Risk Pathogenic Premature ovarian failure 10, Premature ovarian failure 10
RS869320754 NFKB1 Health Risk Pathogenic Immunodeficiency, common variable
RS869320755 PPP2R5C Health Risk Pathogenic —
RS869320757 GLRX5 Health Risk Likely pathogenic Spasticity-ataxia-gait anomalies syndrome, Spasticity-ataxia-gait anomalies syndrome
RS869320758 GLRX5 Health Risk Pathogenic Spasticity-ataxia-gait anomalies syndrome, Spasticity-ataxia-gait anomalies syndrome
RS869320759 SLC9A3 Health Risk Pathogenic Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8
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