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
RS2108873176 TP63 Health Risk Likely pathogenic TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS2108873431 TP63 Health Risk Pathogenic Rapp-Hodgkin syndrome, Rapp-Hodgkin syndrome
RS2108874029 TP63 Health Risk Pathogenic Rapp-Hodgkin syndrome, Rapp-Hodgkin syndrome
RS2108874622 TP63 Health Risk Likely pathogenic TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS2108874645 TP63 Health Risk Pathogenic Rapp-Hodgkin syndrome, Rapp-Hodgkin syndrome
RS2108877068 NSD2 Health Risk Pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS2108881184 MYLK Health Risk Likely pathogenic —
RS2108889206 OPA1 Health Risk Pathogenic —
RS2108895910 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2108900159 EVC2 Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2108907946 TAPT1 Health Risk Likely pathogenic —
RS2108908334 P3H2 Health Risk Pathogenic Myopia, high
RS2108909805 P3H2 Health Risk Pathogenic —
RS2108910327 P3H2 Health Risk Pathogenic —
RS2108914971 ATP2C1 Health Risk Pathogenic —
RS2108940028 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS2108940433 NSD2 Health Risk Pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS2108949204 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS2108950399 NSD2 Health Risk Likely pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS2108957092 NSD2 Health Risk Pathogenic —
RS2108958731 NSD2 Health Risk Likely pathogenic Wolf-Hirschhorn like syndrome, Wolf-Hirschhorn like syndrome
RS2108959336 NSD2 Health Risk Pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS2108966214 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS2108968160 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS2108969826 PIGG Health Risk Likely pathogenic Intellectual disability, autosomal recessive 53
RS2108970120 CC2D2A Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2108971327 NSD2 Health Risk Pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS2108971782 NSD2 Health Risk Pathogenic 4p partial monosomy syndrome, 4p partial monosomy syndrome
RS2108976771 NSD2 Health Risk Likely pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS2108977238 RAB28 Health Risk Pathogenic —
RS2108979504 OPA1 Health Risk Pathogenic —
RS2108982050 RAB28 Health Risk Likely pathogenic —
RS2108987681 QDPR Health Risk Pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS2108987721 QDPR Health Risk Pathogenic —
RS2108987974 QDPR Health Risk Pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS2108992958 QDPR Health Risk Pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS2108993008 QDPR Health Risk Pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS2108995799 PIGG Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 53
RS2108997263 QDPR Health Risk Pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS2108998253 CC2D2A Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2108999089 QDPR Health Risk Pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS2109002510 OPA1 Health Risk Likely pathogenic —
RS2109002680 OPA1 Health Risk Pathogenic —
RS2109005483 EIF2B5 Health Risk Likely pathogenic —
RS2109005842 NKX3-2 Health Risk Likely pathogenic Connective tissue disorder, Connective tissue disorder
RS2109007324 EIF2B5 Health Risk Pathogenic —
RS2109008895 EIF2B5 Health Risk Likely pathogenic See cases, See cases
RS2109009235 EIF2B5 Health Risk Pathogenic —
RS2109010145 EIF2B5 Health Risk Pathogenic —
RS2109010154 EIF2B5 Health Risk Pathogenic —
RS2109010667 EIF2B5 Health Risk Pathogenic —
RS2109010735 EIF2B5 Health Risk Pathogenic —
RS2109010897 EIF2B5 Health Risk Pathogenic —
RS2109010973 EIF2B5 Health Risk Likely pathogenic —
RS2109011385 OPA1 Health Risk Likely pathogenic Optic atrophy with or without deafness, ophthalmoplegia
RS2109011461 OPA1 Health Risk Pathogenic —
RS2109012187 EIF2B5 Health Risk Likely pathogenic Vanishing white matter disease, Vanishing white matter disease
RS2109012834 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2109014867 OPA1 Health Risk Likely pathogenic —
RS2109014902 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS2109015193 OPA1 Health Risk Likely pathogenic Optic atrophy with or without deafness, ophthalmoplegia
RS2109020378 NSD2 Health Risk Pathogenic/Likely pathogenic Rauch-Steindl syndrome, NSD2-related disorder
RS2109020533 NSD2 Health Risk Likely pathogenic —
RS2109021958 SEPSECS Health Risk Likely pathogenic —
RS2109022156 SEPSECS Health Risk Pathogenic —
RS2109022168 SEPSECS Health Risk Pathogenic —
RS2109022340 SEPSECS Health Risk Likely pathogenic —
RS2109022762 DVL3 Health Risk Likely pathogenic Autosomal dominant Robinow syndrome 3, Autosomal dominant Robinow syndrome 3
RS2109023862 DVL3 Health Risk Likely pathogenic Autosomal dominant Robinow syndrome 3, Autosomal dominant Robinow syndrome 3
RS2109023897 DVL3 Health Risk Likely pathogenic See cases, See cases
RS2109023958 CC2D2A Health Risk Likely pathogenic —
RS2109029105 SEPSECS Health Risk Likely pathogenic —
RS2109029810 CC2D2A Health Risk Likely pathogenic Anencephaly, Polydactyly
RS2109029867 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2109032673 SEPSECS Health Risk Pathogenic —
RS2109032716 SEPSECS Health Risk Pathogenic —
RS2109034059 SEPSECS Health Risk Pathogenic —
RS2109034069 SEPSECS Health Risk Pathogenic —
RS2109034260 SEPSECS Health Risk Likely pathogenic Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D
RS2109035117 NSD2 Health Risk Conflicting classifications of pathogenicity Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS2109035570 SEPSECS Health Risk Likely pathogenic —
RS2109035661 SEPSECS Health Risk Pathogenic —
RS2109038924 SEPSECS Health Risk Likely pathogenic —
RS2109039199 SEPSECS Health Risk Pathogenic —
RS2109039412 OPA1 Health Risk Pathogenic —
RS2109039751 OPA1 Health Risk Pathogenic —
RS2109043623 OPA1 Health Risk Pathogenic —
RS2109043749 OPA1 Health Risk Pathogenic Autosomal dominant optic atrophy classic form, Optic atrophy
RS2109043753 OPA1 Health Risk Pathogenic —
RS2109043788 OPA1 Health Risk Likely pathogenic —
RS2109044278 OPA1 Health Risk Pathogenic —
RS2109044398 OPA1 Health Risk Pathogenic —
RS2109044547 OPA1 Health Risk Pathogenic —
RS2109047342 OPA1 Health Risk Pathogenic —
RS2109050324 CC2D2A Health Risk Pathogenic Joubert syndrome 9, Joubert syndrome 9
RS2109057310 SLC34A2 Health Risk Pathogenic —
RS2109057450 OPA1 Health Risk Pathogenic/Likely pathogenic —
RS2109058653 OPA1 Health Risk Pathogenic —
RS2109058910 OPA1 Health Risk Likely pathogenic Optic atrophy with or without deafness, ophthalmoplegia
RS2109058985 OPA1 Health Risk Likely pathogenic Optic atrophy with or without deafness, ophthalmoplegia
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