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: rs121912527
rs121912527
LHCGR ; GTF2A1L ; STON1-GTF2A1L
2 0.925 0.160 2 48723689 missense variant A/G snv 0.700 0
dbSNP: rs121912530
rs121912530
LHCGR ; GTF2A1L ; STON1-GTF2A1L
4 0.851 0.160 2 48687923 missense variant A/T snv 7.0E-06 0.700 0