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
RS2526710679 ADAMTSL4 Health Risk Pathogenic —
RS2526718012 ADAMTSL4 Health Risk Pathogenic Isolated ectopia lentis, Isolated ectopia lentis
RS2526720006 ADAMTSL4 Health Risk Pathogenic —
RS2526720289 ADAMTSL4 Health Risk Pathogenic —
RS2526726489 ALDH18A1 Health Risk Pathogenic Cutis laxa, autosomal dominant 3
RS2526727709 ALDH18A1 Health Risk Pathogenic Cutis laxa, autosomal dominant 3
RS2526729059 ALDH18A1 Health Risk Pathogenic Cutis laxa, autosomal dominant 3
RS2526736679 ADAMTSL4 Health Risk Pathogenic —
RS2526751018 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2526755836 ASH1L Health Risk Pathogenic Intellectual disability, autosomal dominant 52
RS2526756087 ASH1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 52
RS2526757687 HUWE1 Health Risk Pathogenic Intellectual disability, X-linked syndromic
RS2526757763 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2526758787 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2526762309 PKP1 Health Risk Pathogenic Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency
RS2526767220 LEPR Health Risk Pathogenic —
RS2526768089 ADAMTSL4 Health Risk Pathogenic —
RS2526770279 ADAMTSL4 Health Risk Pathogenic —
RS2526771277 ADAMTSL4 Health Risk Pathogenic —
RS2526778229 ADAMTSL4 Health Risk Pathogenic —
RS2526779576 ADAMTSL4 Health Risk Pathogenic —
RS2526780892 ADAMTSL4 Health Risk Likely pathogenic See cases, See cases
RS2526782628 ADAMTSL4 Health Risk Pathogenic —
RS2526786866 NEXN Health Risk Likely pathogenic Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC
RS2526788248 ADAMTSL4 Health Risk Pathogenic/Likely pathogenic Ectopia lentis et pupillae, Ectopia lentis 2
RS2526788988 NEXN Health Risk Pathogenic Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC
RS2526801099 ADAMTSL4 Health Risk Likely pathogenic —
RS2526809677 PBX1 Health Risk Likely pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS2526809987 KCNH1 Health Risk Likely pathogenic KCNH1-related disorder, KCNH1-related disorder
RS2526809998 PBX1 Health Risk Pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS2526810325 PBX1 Health Risk Pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS2526810620 PBX1 Health Risk Likely pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS2526811415 ALDH18A1 Health Risk Pathogenic Cutis laxa, autosomal dominant 3
RS2526811497 DDR2 Health Risk Likely pathogenic —
RS2526829751 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2526835356 DDR2 Health Risk Pathogenic —
RS2526835712 KCNH1 Health Risk Likely pathogenic KCNH1-related disorder, KCNH1-related disorder
RS2526841964 DSTYK Health Risk Likely pathogenic Congenital anomalies of kidney and urinary tract 1, Congenital anomalies of kidney and urinary tract 1
RS2526845931 GNPAT Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2526855331 PBX1 Health Risk Likely pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS2526855476 PBX1 Health Risk Likely pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS2526867772 ALDH18A1 Health Risk Conflicting classifications of pathogenicity de Barsy syndrome, Autosomal dominant spastic paraplegia type 9
RS2526881783 PBX1 Health Risk Pathogenic —
RS2526888534 MUC1 Health Risk Likely pathogenic Tubulointerstitial kidney disease, autosomal dominant
RS2526890961 EDARADD Health Risk Pathogenic Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type
RS2526897392 ALDH18A1 Health Risk Pathogenic Cutis laxa, autosomal dominant 3
RS2526899878 ALDH18A1 Health Risk Likely pathogenic Cutis laxa, autosomal dominant 3
RS2526900150 ALDH18A1 Health Risk Pathogenic Cutis laxa, autosomal dominant 3
RS2526906935 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2526907455 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2526908392 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2526908416 LYST Health Risk Pathogenic/Likely pathogenic LYST-related disorder, Chédiak-Higashi syndrome
RS2526911861 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2526914541 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2526922942 CD55 Health Risk Likely pathogenic CD55-related disorder, CD55-related disorder
RS2526924702 CD55 Health Risk Pathogenic —
RS2526924725 CD55 Health Risk Pathogenic —
RS2526927321 EDARADD Health Risk Pathogenic Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type
RS2526932418 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2526937956 TBCE Health Risk Likely pathogenic —
RS2526941929 TNNT2 Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2526947236 CD55 Health Risk Likely pathogenic —
RS2526953654 TNNT2 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 2, Hypertrophic cardiomyopathy 2
RS2526964523 CD55 Health Risk Likely pathogenic —
RS2526967162 GNPAT Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2526969474 SYT2 Health Risk Pathogenic —
RS2526974512 SYT2 Health Risk Likely pathogenic Congenital myasthenic syndrome 7, Congenital myasthenic syndrome 7
RS2526989632 SYT2 Health Risk Likely pathogenic Myasthenic syndrome, congenital
RS2526991185 PIGC Health Risk Pathogenic/Likely pathogenic Glycosylphosphatidylinositol biosynthesis defect 16, Global developmental delay
RS2526991704 GNPAT Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2526997211 TBCE Health Risk Pathogenic —
RS2526997302 TBCE Health Risk Pathogenic —
RS2527008372 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527008662 LYST Health Risk Pathogenic/Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527012076 TBCE Health Risk Pathogenic —
RS2527012164 TBCE Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2527012174 TBCE Health Risk Pathogenic —
RS2527012751 GNPAT Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527013115 GNPAT Health Risk Pathogenic —
RS2527013203 GNPAT Health Risk Pathogenic —
RS2527014983 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527016118 TNNT2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 2
RS2527016426 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527016878 GNPAT Health Risk Likely pathogenic —
RS2527016939 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527017267 GNPAT Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527017466 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527021944 GNPAT Health Risk Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527022021 GNPAT Health Risk Pathogenic —
RS2527022406 GNPAT Health Risk Likely pathogenic —
RS2527022409 GNPAT Health Risk Likely pathogenic —
RS2527024491 GNPAT Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527024495 GNPAT Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527024540 GNPAT Health Risk Pathogenic —
RS2527024799 GNPAT Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527024851 GNPAT Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527024893 TNNT2 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D
RS2527024941 GNPAT Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2527024984 GNPAT Health Risk Pathogenic —
RS2527028214 TBCE Health Risk Pathogenic —
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