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
RS2475537760 KIT Health Risk Likely pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS2475543943 KIT Health Risk Pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS2475547931 KIT Health Risk Likely pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS2475548694 COL4A4 Health Risk Likely pathogenic —
RS2475551097 COL4A4 Health Risk Pathogenic —
RS2475551311 COL4A4 Health Risk Likely pathogenic Benign familial hematuria, Autosomal recessive Alport syndrome
RS2475566241 EVC2 Health Risk Likely pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS2475571790 KIT Health Risk Likely pathogenic —
RS2475571995 KIT Health Risk Pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS2475578663 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2475578699 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2475578805 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2475579060 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2475580728 COL4A4 Health Risk Pathogenic —
RS2475583630 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2475583796 KIT Health Risk Likely pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS2475585321 KIT Health Risk Pathogenic Piebaldism, Piebaldism
RS2475590742 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2475591015 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2475591341 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2475591669 EVC2 Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS2475591881 EVC2 Health Risk Likely pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS2475597907 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2475602035 RFC1 Health Risk Pathogenic Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome, Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
RS2475626724 GABRA2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2475627246 GABRA2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 78
RS2475629515 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS2475639659 COL4A4 Health Risk Likely pathogenic —
RS2475645750 GABRA2 Health Risk Conflicting classifications of pathogenicity —
RS2475659360 PDCD10 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS2475664566 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS2475716333 ADGRG1 Health Risk Pathogenic —
RS2475717504 SLC4A4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2475720206 TECRL Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 3, Catecholaminergic polymorphic ventricular tachycardia 3
RS2475720222 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS2475720278 PDCD10 Health Risk Likely pathogenic —
RS2475721715 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS2475731012 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS2475731172 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS2475731521 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS2475745208 CNGA1 Health Risk Pathogenic Retinitis pigmentosa 49, Retinitis pigmentosa 49
RS2475748633 CNGA1 Health Risk Likely pathogenic Retinitis pigmentosa 49, Retinitis pigmentosa 49
RS2475748768 CNGA1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2475749170 CNGA1 Health Risk Pathogenic —
RS2475752862 CNGA1 Health Risk Pathogenic —
RS2475753166 CNGA1 Health Risk Pathogenic —
RS2475761079 FRAS1 Health Risk Pathogenic —
RS2475768323 CNGA1 Health Risk Pathogenic —
RS2475768684 CNGA1 Health Risk Pathogenic Retinitis pigmentosa 49, Retinitis pigmentosa 49
RS2475768752 CNGA1 Health Risk Pathogenic Retinitis pigmentosa 49, Retinitis pigmentosa 49
RS2475772649 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2475773495 FRAS1 Health Risk Pathogenic —
RS2475773659 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS2475774780 COL4A4 Health Risk Likely pathogenic Benign familial hematuria, Benign familial hematuria
RS2475774834 COL4A4 Health Risk Pathogenic —
RS2475777661 ANTXR2 Health Risk Likely pathogenic Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
RS2475782005 CNGA1 Health Risk Pathogenic —
RS2475783849 CNGA1 Health Risk Pathogenic —
RS2475785741 COL4A4 Health Risk Likely pathogenic —
RS2475786944 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS2475788149 COL4A4 Health Risk Pathogenic/Likely pathogenic Hematuria, benign familial
RS2475788686 COL4A4 Health Risk Pathogenic —
RS2475792758 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS2475792796 FRAS1 Health Risk Pathogenic —
RS2475792990 FRAS1 Health Risk Pathogenic —
RS2475797794 REST Health Risk Pathogenic —
RS2475800849 REST Health Risk Likely pathogenic REST-related disorder, REST-related disorder
RS2475801074 REST Health Risk Pathogenic —
RS2475801182 REST Health Risk Likely pathogenic —
RS2475804586 GNRHR Health Risk Pathogenic/Likely pathogenic Isolated congenital hypogonadotropic hypogonadism, Isolated congenital hypogonadotropic hypogonadism
RS2475804777 GNRHR Health Risk Likely pathogenic See cases, See cases
RS2475805410 GNRHR Health Risk Pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia
RS2475806399 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS2475808518 FRAS1 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS2475808538 FRAS1 Health Risk Pathogenic —
RS2475811047 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2475813744 FRAS1 Health Risk Pathogenic —
RS2475814978 COL4A4 Health Risk Likely pathogenic —
RS2475816188 CNGA1 Health Risk Pathogenic Retinitis pigmentosa 49, Retinitis pigmentosa 49
RS2475817708 GC Health Risk Pathogenic Chronic obstructive pulmonary disease, Chronic obstructive pulmonary disease
RS2475822002 FRAS1 Health Risk Pathogenic —
RS2475825927 REST Health Risk Likely pathogenic REST-related disorder, REST-related disorder
RS2475834136 FRAS1 Health Risk Pathogenic —
RS2475838274 FRAS1 Health Risk Pathogenic —
RS2475838494 FRAS1 Health Risk Pathogenic —
RS2475847495 FRAS1 Health Risk Likely pathogenic —
RS2475851383 FRAS1 Health Risk Pathogenic —
RS2475851664 FRAS1 Health Risk Likely pathogenic FRAS1-related disorder, FRAS1-related disorder
RS2475854474 REST Health Risk Pathogenic Fibromatosis, gingival
RS2475860796 TECRL Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2475869362 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475869382 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2475869442 PKD2 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS2475869464 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2475879245 DSPP Health Risk Pathogenic —
RS2475880340 DSPP Health Risk Pathogenic Dentinogenesis imperfecta, Dentinogenesis imperfecta
RS2475880409 DSPP Health Risk Pathogenic Dentinogenesis imperfecta, Dentinogenesis imperfecta
RS2475883449 DSPP Health Risk Likely pathogenic DSPP-related disorder, DSPP-related disorder
RS2475883633 DSPP Health Risk Likely pathogenic Dentinogenesis imperfecta type 2, Dentinogenesis imperfecta type 2
RS2475884550 DSPP Health Risk Pathogenic Dentinogenesis imperfecta type 2, Dentinogenesis imperfecta type 2
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