Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912535
rs121912535
LHCGR ; GTF2A1L ; STON1-GTF2A1L
6 0.827 0.240 2 48688427 missense variant A/C snv 0.010 1.000 1 2000 2000