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
RS155370 TMEM132D Health Risk association Vascular endothelial growth factor (VEGF) inhibitor response, Vascular endothelial growth factor (VEGF) inhibitor response
RS1553700581 SCN5A Health Risk Pathogenic —
RS1553700597 SCN5A Health Risk Pathogenic —
RS1553700642 SETD2 Health Risk Pathogenic —
RS1553700656 SCN5A Health Risk Pathogenic —
RS1553700699 SCN5A Health Risk Pathogenic Brugada syndrome, Brugada syndrome
RS1553701033 FLNB Health Risk Likely pathogenic Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome
RS1553701477 MITF Health Risk Pathogenic Waardenburg syndrome type 2A, Waardenburg syndrome type 2A
RS1553702006 MITF Health Risk Pathogenic/Likely pathogenic Waardenburg syndrome type 2A, Tietz syndrome
RS1553702406 MITF Health Risk Likely pathogenic Waardenburg syndrome type 2A, Waardenburg syndrome type 2A
RS1553702928 SCN5A Health Risk Pathogenic —
RS1553703015 SCN5A Health Risk Pathogenic —
RS1553703211 SCN5A Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1553703310 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS1553703612 MITF Health Risk Pathogenic Waardenburg syndrome type 2A, Waardenburg syndrome type 2A
RS1553703619 MITF Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS1553703909 FLNB Health Risk Likely pathogenic Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome
RS1553704086 MITF Health Risk Likely pathogenic Tietz syndrome, Waardenburg syndrome type 2A
RS1553704093 MITF Health Risk Pathogenic —
RS1553704097 MITF Health Risk Pathogenic/Likely pathogenic Waardenburg syndrome type 2A, Tietz syndrome
RS1553704183 SCN5A Health Risk Pathogenic/Likely pathogenic Sick sinus syndrome 1, Cardiac arrhythmia
RS1553704259 SCN5A Health Risk Likely pathogenic —
RS1553704327 TRIP12 Health Risk Pathogenic Clark-Baraitser syndrome, Clark-Baraitser syndrome
RS1553704446 FLNB Health Risk Pathogenic/Likely pathogenic Larsen syndrome, Abnormality of the skeletal system
RS1553704489 SCN5A Health Risk Pathogenic —
RS1553704675 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome 1, Cardiovascular phenotype
RS1553704677 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome 1, Brugada syndrome 1
RS1553704696 TRIP12 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553704814 MITF Health Risk Pathogenic Tietz syndrome, Coloboma
RS1553704841 MITF Health Risk Pathogenic Waardenburg syndrome type 2A, Waardenburg syndrome type 2A
RS1553704850 MITF Health Risk Likely pathogenic Waardenburg syndrome type 2A, Waardenburg syndrome type 2A
RS1553704878 SCN5A Health Risk Pathogenic/Likely pathogenic —
RS1553704896 SCN5A Health Risk Pathogenic —
RS1553704898 SCN5A Health Risk Pathogenic —
RS1553705079 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553705282 MITF Health Risk Pathogenic Waardenburg syndrome type 2A, Waardenburg syndrome type 2A
RS1553705557 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553705586 SCN5A Health Risk Likely pathogenic Brugada syndrome, Cardiovascular phenotype
RS1553706324 SCN5A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1553706775 DHX30 Health Risk Pathogenic Neurodevelopmental disorder with severe motor impairment and absent language, Neurodevelopmental disorder with severe motor impairment and absent language
RS1553706799 DHX30 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with severe motor impairment and absent language, Inborn genetic diseases
RS1553706971 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553707019 DHX30 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with severe motor impairment and absent language, Neurodevelopmental disorder with severe motor impairment and absent language
RS1553707780 TTN Health Risk Pathogenic Primary dilated cardiomyopathy, Cardiomyopathy
RS1553709380 ATP6V1A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy 93
RS1553709855 ATP6V1A Health Risk Pathogenic Developmental and epileptic encephalopathy 93, Developmental and epileptic encephalopathy 93
RS1553709881 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Cerebellar vermis hypoplasia
RS1553709907 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS1553709919 FOXP1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553710664 ATP6V1A Health Risk Pathogenic Developmental and epileptic encephalopathy 93, Developmental and epileptic encephalopathy 93
RS1553710694 ATP6V1A Health Risk Pathogenic Developmental and epileptic encephalopathy 93, Developmental and epileptic encephalopathy 93
RS1553710982 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1553711195 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS1553711564 IQCB1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1553712110 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1553712148 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553712292 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553713075 HYAL1 Health Risk Pathogenic Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS1553713128 HYAL1 Health Risk Pathogenic Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS1553713167 HYAL1 Health Risk Pathogenic Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS1553713200 HYAL1 Health Risk Pathogenic Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS1553713469 HYAL1 Health Risk Pathogenic Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS1553715351 HGD Health Risk Conflicting classifications of pathogenicity Alkaptonuria, Alkaptonuria
RS1553715579 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553715636 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1553715895 HYAL2 Health Risk Likely pathogenic HYAL2 deficiency, Muggenthaler-Chowdhury-Chioza syndrome
RS1553715911 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1553716439 HYAL2 Health Risk Pathogenic HYAL2 deficiency, Muggenthaler-Chowdhury-Chioza syndrome
RS1553716979 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS1553717306 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553717936 HGD Health Risk Conflicting classifications of pathogenicity Alkaptonuria, Alkaptonuria
RS1553718863 ADCY5 Health Risk Likely pathogenic Dyskinesia with orofacial involvement, autosomal dominant
RS1553718908 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1553718964 ADCY5 Health Risk Pathogenic —
RS1553721106 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553721236 SEC61A1 Health Risk Likely pathogenic Decreased circulating immunoglobulin concentration, Immunodeficiency
RS1553721599 HGD Health Risk Likely pathogenic —
RS1553721650 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS1553722294 STAG1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 47
RS1553722309 STAG1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 47
RS1553722736 IQCB1 Health Risk Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS1553724533 ANO10 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS1553724606 ADCY5 Health Risk Pathogenic Dyskinesia with orofacial involvement, autosomal dominant
RS1553725355 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553725815 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1553726054 ADCY5 Health Risk Likely pathogenic Dyskinesia with orofacial involvement, autosomal dominant
RS1553726252 CACNA2D2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553727865 STAG1 Health Risk Likely pathogenic STAG1-related disorder, STAG1-related disorder
RS1553728634 STAG1 Health Risk Likely pathogenic STAG1-related disorder, STAG1-related disorder
RS1553729881 CACNA2D2 Health Risk Likely pathogenic —
RS1553730120 CACNA2D2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553730872 TBC1D23 Health Risk Pathogenic Pontocerebellar hypoplasia, type 11
RS1553730885 TBC1D23 Health Risk Pathogenic Pontocerebellar hypoplasia, type 11
RS1553730947 ACAD9 Health Risk Likely pathogenic —
RS1553731603 TBC1D23 Health Risk Pathogenic Pontocerebellar hypoplasia, type 11
RS1553731605 TBC1D23 Health Risk Likely pathogenic Pontocerebellar hypoplasia, type 11
RS1553731681 CASR Health Risk Likely pathogenic Familial hypocalciuric hypercalcemia, Familial hypocalciuric hypercalcemia
RS1553732126 ADCY5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553734044 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS1553738605 QRICH1 Health Risk Pathogenic Ververi-Brady syndrome, Ververi-Brady syndrome
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