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: rs121912518
rs121912518
LHCGR ; GTF2A1L ; STON1-GTF2A1L
5 0.882 0.160 2 48688064 missense variant T/C;G snv 0.030 1.000 3 1994 2011
dbSNP: rs121912526
rs121912526
LHCGR ; GTF2A1L ; STON1-GTF2A1L
4 0.882 0.040 2 48688604 missense variant A/G snv 0.020 1.000 2 1996 2002
dbSNP: rs121912532
rs121912532
LHCGR ; GTF2A1L ; STON1-GTF2A1L
12 0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05 0.020 1.000 2 2011 2017
dbSNP: rs1046910653
rs1046910653
CD44
2 0.925 0.040 11 35206151 missense variant C/T snv 0.010 1.000 1 2002 2002
dbSNP: rs121912522
rs121912522
LHCGR ; GTF2A1L ; STON1-GTF2A1L
2 0.925 0.040 2 48688082 missense variant G/A;C snv 0.010 1.000 1 1995 1995
dbSNP: rs121912534
rs121912534
LHCGR ; GTF2A1L ; STON1-GTF2A1L
3 0.882 0.040 2 48688094 missense variant G/A;T snv 0.010 1.000 1 2000 2000
dbSNP: rs121912535
rs121912535
LHCGR ; GTF2A1L ; STON1-GTF2A1L
6 0.827 0.240 2 48688427 missense variant A/C snv 0.010 1.000 1 2018 2018
dbSNP: rs121912540
rs121912540
LHCGR ; GTF2A1L ; STON1-GTF2A1L
3 0.882 0.040 2 48688106 missense variant T/C snv 0.010 1.000 1 2006 2006
dbSNP: rs770120065
rs770120065
CYP19A1 ; MIR4713HG
1 1.000 0.040 15 51210950 missense variant C/A;T snv 4.0E-06; 1.4E-04 0.010 1.000 1 2018 2018
dbSNP: rs774592723
rs774592723
CD44
2 0.925 0.040 11 35204551 missense variant C/T snv 4.0E-06 0.010 1.000 1 2002 2002