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: rs1805008
rs1805008
MC1R
16 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs28940892
rs28940892
MC2R
3 0.882 0.200 18 13884758 missense variant T/C snv 0.010 1.000 1 1995 1995
dbSNP: rs752077839
rs752077839
POMC
2 0.925 2 25161329 missense variant G/A snv 8.8E-06 0.010 1.000 1 2012 2012
dbSNP: rs765856804
rs765856804
MC2R
1 1.000 18 13885064 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012