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: rs121912526
rs121912526
LHCGR ; GTF2A1L ; STON1-GTF2A1L
4 0.882 0.040 2 48688604 missense variant A/G snv 0.840 1.000 15 1993 2002
dbSNP: rs121912518
rs121912518
LHCGR ; GTF2A1L ; STON1-GTF2A1L
5 0.882 0.160 2 48688064 missense variant T/C;G snv 0.830 1.000 13 1993 2013
dbSNP: rs121912521
rs121912521
LHCGR ; GTF2A1L ; STON1-GTF2A1L
2 0.925 0.200 2 48688067 missense variant G/A snv 0.810 1.000 12 1993 2006
dbSNP: rs121912540
rs121912540
LHCGR ; GTF2A1L ; STON1-GTF2A1L
3 0.882 0.040 2 48688106 missense variant T/C snv 0.810 1.000 12 1993 2006
dbSNP: rs121912522
rs121912522
LHCGR ; GTF2A1L ; STON1-GTF2A1L
2 0.925 0.040 2 48688082 missense variant G/A;C snv 0.810 1.000 11 1993 2001
dbSNP: rs121912533
rs121912533
LHCGR ; GTF2A1L ; STON1-GTF2A1L
1 1.000 0.040 2 48688694 missense variant A/G snv 0.810 1.000 11 1993 2001
dbSNP: rs121912534
rs121912534
LHCGR ; GTF2A1L ; STON1-GTF2A1L
3 0.882 0.040 2 48688094 missense variant G/A;T snv 0.810 1.000 11 1993 2001
dbSNP: rs121912519
rs121912519
LHCGR ; GTF2A1L ; STON1-GTF2A1L
1 1.000 0.040 2 48688084 missense variant C/T snv 0.800 1.000 11 1993 2001
dbSNP: rs121912528
rs121912528
LHCGR ; GTF2A1L ; STON1-GTF2A1L
1 1.000 0.040 2 48688679 missense variant G/A snv 0.800 1.000 11 1993 2001
dbSNP: rs121912531
rs121912531
LHCGR ; GTF2A1L ; STON1-GTF2A1L
1 1.000 0.040 2 48688173 missense variant T/G snv 0.800 1.000 11 1993 2001
dbSNP: rs121912532
rs121912532
LHCGR ; GTF2A1L ; STON1-GTF2A1L
12 0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05 0.800 1.000 11 1993 2001
dbSNP: rs121912535
rs121912535
LHCGR ; GTF2A1L ; STON1-GTF2A1L
6 0.827 0.240 2 48688427 missense variant A/C snv 0.800 1.000 11 1993 2001
dbSNP: rs1046910653
rs1046910653
CD44
2 0.925 0.040 11 35206151 missense variant C/T snv 0.010 1.000 1 2002 2002
dbSNP: rs28934586
rs28934586
CYP11B1 ; GML
5 0.827 0.200 8 142875012 missense variant C/T snv 2.4E-05 2.1E-05 0.010 1.000 1 1997 1997
dbSNP: rs746394859
rs746394859
CD44
3 0.882 0.120 11 35229182 missense variant A/G snv 4.0E-06 0.010 1.000 1 2013 2013
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
dbSNP: rs79985395
rs79985395
CD44
1 1.000 0.040 11 35206211 missense variant T/A;C;G snv 4.6E-04; 2.5E-04 0.010 1.000 1 2000 2000