EXT1, exostosin glycosyltransferase 1, 2131

N. diseases: 205; N. variants: 63
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs142459060
rs142459060
1.000 0.080 8 117816659 intron variant T/C snv 2.3E-02
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2018 2018