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: rs1805007
rs1805007
MC1R
25 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.030 1.000 3 2005 2008
dbSNP: rs1805008
rs1805008
MC1R
16 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 0.020 1.000 2 2005 2008
dbSNP: rs1232547491
rs1232547491
RHCE
4 0.851 0.120 1 25385838 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs1418568941
rs1418568941
CD177
1 1.000 19 43355732 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs1449409868
rs1449409868
SSTR4
2 0.925 0.040 20 23035958 missense variant C/A;T snv 4.1E-06; 4.1E-06 0.010 1.000 1 2005 2005
dbSNP: rs149617956
rs149617956
MITF
32 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.010 1.000 1 2014 2014
dbSNP: rs16891982
rs16891982
SLC45A2
13 0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 0.010 1.000 1 2010 2010
dbSNP: rs1805005
rs1805005
MC1R
8 0.827 0.080 16 89919436 missense variant G/T snv 8.6E-02 8.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs1805009
rs1805009
MC1R ; TUBB3
9 0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03 0.010 1.000 1 2008 2008
dbSNP: rs2228479
rs2228479
MC1R
11 0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs752077839
rs752077839
POMC
2 0.925 2 25161329 missense variant G/A snv 8.8E-06 0.010 1.000 1 2005 2005
dbSNP: rs758656848
rs758656848
PTCH1
3 0.925 0.040 9 95485797 missense variant T/C snv 0.010 1.000 1 2006 2006
dbSNP: rs760253622
rs760253622
PTCH1
3 0.925 0.040 9 95506428 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2006 2006