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
RS2498337036 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Intellectual disability
RS2498339461 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498342449 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498343608 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498344675 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498345175 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498349642 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498350974 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498351903 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498351983 KMT2D Health Risk Likely pathogenic —
RS2498352421 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498352982 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498353923 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498354547 KMT2D Health Risk Pathogenic KMT2D-related disorder, KMT2D-related disorder
RS2498354630 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498354645 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498356859 KMT2D Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2498357112 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498357122 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498359196 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498359499 KMT2D Health Risk Pathogenic —
RS2498359638 KMT2D Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2498360093 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498360662 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498360855 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498361840 KMT2D Health Risk Pathogenic See cases, See cases
RS2498363169 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498363256 KMT2D Health Risk Pathogenic KMT2D-related disorder, KMT2D-related disorder
RS2498364326 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498364859 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498364996 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498365992 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498366571 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498366999 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498368513 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498370314 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498378481 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498380067 KMT2D Health Risk Pathogenic —
RS2498381897 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498386330 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498387300 PLCZ1 Health Risk Pathogenic —
RS2498388518 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Neoplasm
RS2498388896 KMT2D Health Risk Pathogenic KMT2D-related disorder, KMT2D-related disorder
RS2498389090 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498389370 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498389929 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498390391 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498391189 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498391237 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498392407 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498393566 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498393597 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498393730 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS2498394572 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS2498395548 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498395879 KMT2D Health Risk Pathogenic KMT2D-related disorder, KMT2D-related disorder
RS2498395997 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498396617 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2498396868 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498398342 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498399531 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498400320 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498400647 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498400869 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498401830 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498402068 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498402235 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498403357 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498404200 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498405398 STIM1 Health Risk Likely pathogenic Stormorken syndrome, Combined immunodeficiency due to STIM1 deficiency
RS2498407244 KRT5 Health Risk Pathogenic/Likely pathogenic Dowling-Degos disease 1, Dowling-Degos disease 1
RS2498407381 KRT5;LOC126861526 Health Risk Likely pathogenic —
RS2498409143 KRT5 Health Risk Conflicting classifications of pathogenicity KRT5-related disorder, KRT5-related disorder
RS2498409200 KRT5 Health Risk Pathogenic —
RS2498409261 KRT5 Health Risk Likely pathogenic —
RS2498409394 KRT5 Health Risk Likely pathogenic —
RS2498410467 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498412113 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498413073 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498413100 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498413938 CHEK1 Health Risk Pathogenic Oocyte/zygote/embryo maturation arrest 21, Oocyte/zygote/embryo maturation arrest 21
RS2498414424 CHEK1 Health Risk Pathogenic Oocyte/zygote/embryo maturation arrest 21, Oocyte/zygote/embryo maturation arrest 21
RS2498414471 CHEK1 Health Risk Pathogenic Oocyte/zygote/embryo maturation arrest 21, Oocyte/zygote/embryo maturation arrest 21
RS2498414823 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498421685 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498422212 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498425963 DLAT Health Risk Likely pathogenic Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency
RS2498428284 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498429287 SYNE1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive ataxia, Beauce type
RS2498430538 KMT2D Health Risk Likely pathogenic Kabuki syndrome, Kabuki syndrome
RS2498436859 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2498438955 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498441853 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498443727 KMT2D Health Risk Pathogenic —
RS2498446413 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498448763 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498456323 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2498457776 KMT2D Health Risk Pathogenic KMT2D-related disorder, KMT2D-related disorder
RS2498458405 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2498458491 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
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