SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS727504989 CLDN14 Health Risk Conflicting classifications of pathogenicity —
RS727504993 SLC26A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS727504995 MYO15A Health Risk Pathogenic Nonsyndromic genetic hearing loss, Rare genetic deafness
RS727504998 SGCD Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
RS727505004 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11
RS727505006 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS727505007 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS727505010 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS727505013 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS727505014 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727505015 MYO6 Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS727505017 RAF1 Health Risk Likely pathogenic Noonan syndrome, Primary familial hypertrophic cardiomyopathy
RS727505020 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727505023 TNNI3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727505024 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727505026 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Dyspnea
RS727505029 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
RS727505036 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727505037 DSP Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS727505038 LMNA Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS727505041 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS727505042 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Dilated cardiomyopathy 1JJ
RS727505053 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727505056 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS727505057 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS727505060 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS727505066 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS727505067 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiomyopathy
RS727505070 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS727505072 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727505074 STRC Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS727505076 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Cardiovascular phenotype
RS727505077 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype
RS727505080 SLC26A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS727505084 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 1, Atrial fibrillation
RS727505088 SLC26A4 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Pendred syndrome
RS727505089 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS727505091 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727505092 SGCD Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases
RS727505093 SOS1 Health Risk Likely pathogenic Noonan syndrome, RASopathy
RS727505096 OTOF Health Risk Conflicting classifications of pathogenicity —
RS727505097 USH2A Health Risk Conflicting classifications of pathogenicity —
RS727505098 MYO6 Health Risk Conflicting classifications of pathogenicity —
RS727505101 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS727505104 LOXHD1 Health Risk Pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 77
RS727505109 BAG3 Health Risk Pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1HH
RS727505110 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS727505112 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS727505115 DSP Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, DSP-related disorder
RS727505116 USH2A Health Risk Pathogenic Retinitis pigmentosa, Usher syndrome
RS727505124 NEXN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS727505132 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727505144 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy
RS727505146 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS727505148 MYH7 Health Risk Likely pathogenic —
RS727505152 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS727505155 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS727505158 SCN5A Health Risk Pathogenic Brugada syndrome, Brugada syndrome 1
RS727505166 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS727505170 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Usher syndrome type 2A
RS727505176 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS727505178 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS727505188 WHRN Health Risk Conflicting classifications of pathogenicity —
RS727505189 OTOF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS727505196 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727505197 MYL3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 8, Cardiomyopathy
RS727505199 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727505200 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727505201 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727505202 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1
RS727505205 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
RS727505215 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS727505221 TTN Health Risk Conflicting classifications of pathogenicity —
RS727505222 ATP6V1B1 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Renal tubular acidosis with progressive nerve deafness
RS727505224 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Cardiovascular phenotype
RS727505230 SLC26A4 Health Risk Conflicting classifications of pathogenicity Rare genetic deafness, Rare genetic deafness
RS727505232 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, MYO7A-related disorder
RS727505236 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727505237 TNNC1 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1Z
RS727505242 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727505246 POU3F4 Health Risk Likely pathogenic Rare genetic deafness, X-linked mixed hearing loss with perilymphatic gusher
RS727505248 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS727505250 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727505256 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727505260 DSP Health Risk Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS727505267 MYBPC3 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Hypertrophic cardiomyopathy
RS727505269 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS727505271 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS727505272 MYH14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS727505273 GSDME Health Risk Pathogenic Rare genetic deafness, Autosomal dominant nonsyndromic hearing loss 5
RS727505275 CRYM Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 40, Autosomal dominant nonsyndromic hearing loss 40
RS727505277 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS727505283 BAG3 Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS727505284 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS727505288 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS727505292 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Migalastat response
RS727505294 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S
RS727505300 GPSM2 Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS727505308 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS727505310 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
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