RERE, arginine-glutamic acid dipeptide repeats, 473

N. diseases: 215; N. variants: 48
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: rs774429615
rs774429615
1.000 0.120 1 8358814 missense variant C/T snv 4.0E-06
CUI: C0039128
Disease: Syphilis
Syphilis
Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases 0.010 1.000 1 2014 2014