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
RS876657700 MITF Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS876657701 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS876657702 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS876657703 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS876657704 MYBPC3 Health Risk Pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS876657705 MYBPC3 Health Risk Pathogenic Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS876657706 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS876657708 MYO15A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS876657709 MYO6 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS876657710 MYO6 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS876657712 MYO7A Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS876657713 MYO7A Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS876657714 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS876657715 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS876657716 OTOA Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Monogenic hearing loss
RS876657717 PAX3 Health Risk Pathogenic/Likely pathogenic Waardenburg syndrome, Rare genetic deafness
RS876657718 PDE6B Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS876657719 POU3F4 Health Risk Pathogenic Rare genetic deafness, X-linked mixed hearing loss with perilymphatic gusher
RS876657720 SACS Health Risk Pathogenic Autosomal recessive spastic ataxia, Autosomal recessive spastic ataxia
RS876657721 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Autosomal recessive spastic ataxia
RS876657722 SLC26A4 Health Risk Likely pathogenic Rare genetic deafness, Pendred syndrome
RS876657723 SLC26A4 Health Risk Pathogenic Rare genetic deafness, Pendred syndrome
RS876657724 STRC Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS876657725 STRC Health Risk Pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 16
RS876657726 STRC Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS876657727 TMC1 Health Risk Pathogenic Rare genetic deafness, Autosomal dominant nonsyndromic hearing loss 36
RS876657728 TMC1 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS876657729 TMC1 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS876657730 USH2A Health Risk Pathogenic Rare genetic deafness, Retinitis pigmentosa 39
RS876657731 USH2A Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 2
RS876657732 USH2A Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS876657733 USH2A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Usher syndrome
RS876657735 WFS1 Health Risk Conflicting classifications of pathogenicity Rare genetic deafness, Monogenic diabetes
RS876657747 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS876657748 BMPR2 Health Risk Pathogenic Idiopathic and/or familial pulmonary arterial hypertension, Pulmonary hypertension
RS876657754 CDH23 Health Risk Likely pathogenic Rare genetic deafness, Usher syndrome
RS876657759 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS876657767 CSRP3 Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS876657769 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Cardiovascular phenotype
RS876657776 DIAPH1 Health Risk Pathogenic Rare genetic deafness, Autosomal dominant nonsyndromic hearing loss 1
RS876657780 DMD Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Becker muscular dystrophy
RS876657791 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS876657792 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS876657795 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS876657799 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS876657812 GATAD1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 2B, Cardiovascular phenotype
RS876657814 GATAD1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 2B, Dilated cardiomyopathy 2B
RS876657822 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS876657823 ADGRV1 Health Risk Conflicting classifications of pathogenicity ADGRV1-related disorder, Inborn genetic diseases
RS876657827 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS876657841 KCNQ4 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A
RS876657852 LOX Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS876657855 LOXHD1 Health Risk Conflicting classifications of pathogenicity —
RS876657867 MITF Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS876657878 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS876657879 MYH7 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiomyopathy
RS876657880 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS876657884 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS876657887 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1
RS876657888 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS876657903 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS876657907 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS876657911 MYO6 Health Risk Pathogenic/Likely pathogenic —
RS876657913 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS876657914 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, Usher syndrome type 1B
RS876657923 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK
RS876657932 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS876657934 NKX2-5 Health Risk Likely pathogenic Heart, malformation of
RS876657936 OTOG Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 18B, OTOG-related disorder
RS876657964 PTPN11 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS876657970 RBM20 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1DD
RS876657971 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS876657972 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS876657974 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS876657980 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Pheochromocytoma
RS876657984 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS876657987 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS876657992 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS876657993 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS876657994 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS876658020 TMC1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7
RS876658027 TNNT2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy 2
RS876658043 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy
RS876658045 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS876658047 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS876658058 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS876658066 TTN Health Risk Conflicting classifications of pathogenicity —
RS876658077 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS876658095 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS876658102 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS876658108 TTR Health Risk Conflicting classifications of pathogenicity Amyloidosis, hereditary systemic 1
RS876658119 WFS1 Health Risk Uncertain significance/Uncertain risk allele WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS876658120 TGFBR2 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS876658127 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS876658136 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS876658138 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS876658144 TP53 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS876658147 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS876658157 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS876658159 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
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