Gene: POMC ×
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: rs28932472
rs28932472
POMC
3 0.925 0.080 2 25161179 missense variant G/C snv 2.7E-03 2.8E-03 0.030 1.000 3 2002 2016
dbSNP: rs1042571
rs1042571
POMC
3 0.882 0.120 2 25161018 3 prime UTR variant G/A snv 0.16 0.020 1.000 2 2012 2016
dbSNP: rs201408477
rs201408477
POMC
2 0.925 0.080 2 25161455 missense variant A/G snv 1.8E-04 1.6E-04 0.020 1.000 2 2008 2015
dbSNP: rs767700712
rs767700712
POMC
1 1.000 0.080 2 25164690 missense variant C/A;T snv 8.0E-06; 4.0E-06 0.020 1.000 2 2008 2018
dbSNP: rs1173597023
rs1173597023
POMC
1 1.000 0.080 2 25161441 missense variant C/G snv 4.2E-06 0.010 1.000 1 2014 2014
dbSNP: rs1449052677
rs1449052677
POMC
3 0.882 0.120 2 25161643 missense variant T/C snv 1.3E-05 0.010 1.000 1 2015 2015
dbSNP: rs149540566
rs149540566
POMC
1 1.000 0.080 2 25161223 missense variant T/C snv 8.5E-04 9.4E-04 0.010 1.000 1 2006 2006
dbSNP: rs750136455
rs750136455
POMC
2 0.925 0.120 2 25161569 missense variant C/T snv 2.5E-05 7.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs772977552
rs772977552
POMC
1 1.000 0.080 2 25161291 synonymous variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs776588032
rs776588032
POMC
1 1.000 0.080 2 25164664 missense variant G/A snv 2.0E-05 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs80326661
rs80326661
POMC
2 0.925 0.120 2 25161244 missense variant T/C snv 5.4E-03 5.4E-03 0.010 1.000 1 1998 1998