Gene: MC1R ×
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 0.800 0.938 16 2001 2019
dbSNP: rs1805008
rs1805008
MC1R
16 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 0.090 0.889 9 2001 2019
dbSNP: rs1805009
rs1805009
MC1R ; TUBB3
9 0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03 0.070 0.857 7 2001 2018
dbSNP: rs885479
rs885479
MC1R
16 0.732 0.280 16 89919746 missense variant G/A snv 0.15 8.3E-02 0.070 0.714 7 2001 2019
dbSNP: rs1805005
rs1805005
MC1R
8 0.827 0.080 16 89919436 missense variant G/T snv 8.6E-02 8.0E-02 0.060 1.000 6 2006 2015
dbSNP: rs1805006
rs1805006
MC1R
8 0.790 0.080 16 89919510 missense variant C/A;G snv 5.2E-03; 4.0E-06 0.040 1.000 4 1996 2015
dbSNP: rs2228479
rs2228479
MC1R
11 0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06 0.040 0.750 4 2001 2013
dbSNP: rs11547464
rs11547464
MC1R
2 1.000 0.040 16 89919683 missense variant G/A snv 5.3E-03 4.7E-03 0.020 1.000 2 2006 2011
dbSNP: rs1110400
rs1110400
MC1R
3 1.000 0.040 16 89919722 missense variant T/C snv 5.6E-03 6.6E-03 0.010 1.000 1 2008 2008
dbSNP: rs1232525952
rs1232525952
MC1R
2 0.925 0.080 16 89919597 synonymous variant G/A snv 8.1E-06 0.010 1.000 1 2007 2007
dbSNP: rs1340863788
rs1340863788
MC1R
2 0.925 0.080 16 89919595 missense variant C/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs201326893
rs201326893
MC1R
1 1.000 0.040 16 89919714 stop gained C/A snv 8.4E-04 5.4E-04 0.010 1.000 1 2007 2007
dbSNP: rs34090186
rs34090186
MC1R
3 0.882 0.080 16 89919458 missense variant G/A snv 9.6E-04 2.7E-04 0.010 1.000 1 2018 2018
dbSNP: rs371055548
rs371055548
MC1R
2 0.925 0.080 16 89919798 synonymous variant C/T snv 2.4E-05 2.1E-05 0.010 1.000 1 2013 2013
dbSNP: rs374827260
rs374827260
MC1R
1 1.000 0.040 16 89919608 missense variant A/G;T snv 4.1E-06; 1.2E-05 0.010 1.000 1 2014 2014