rs387907222, TMEM165

N. diseases: 1
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Carbohydrate deficient glycoprotein syndrome type 2k
CUI: C3553571
Disease: Carbohydrate deficient glycoprotein syndrome type 2k
4 1.000 0.120 4 55411782 missense variant C/T snv 1.6E-05 1.4E-05 0.700 1.000 3 2012 2013