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: rs104894658
rs104894658
MC2R
2 0.925 0.120 18 13885298 missense variant C/A snv 1.9E-04 3.2E-04 0.800 1.000 12 1993 2016
dbSNP: rs104894656
rs104894656
MC2R
1 1.000 0.120 18 13885159 missense variant G/A;C snv 4.0E-06; 8.0E-06 0.800 1.000 5 1993 2002
dbSNP: rs104894657
rs104894657
MC2R
1 1.000 0.120 18 13885137 missense variant G/A snv 8.0E-06 2.1E-05 0.800 1.000 5 1993 2002
dbSNP: rs104894660
rs104894660
MC2R
2 0.925 0.120 18 13885110 missense variant G/A;T snv 6.0E-05; 2.0E-05 0.800 1.000 5 1993 2002
dbSNP: rs104894661
rs104894661
MC2R
1 1.000 0.120 18 13885200 missense variant C/T snv 4.0E-06 7.0E-06 0.800 1.000 5 1993 2002
dbSNP: rs104894662
rs104894662
MC2R
1 1.000 0.120 18 13884767 missense variant C/A;G;T snv 0.800 1.000 5 1993 2002
dbSNP: rs28940892
rs28940892
MC2R
3 0.882 0.200 18 13884758 missense variant T/C snv 0.800 1.000 5 1993 2002
dbSNP: rs758709668
rs758709668
MC2R
2 0.925 0.200 18 13885082 missense variant C/A;T snv 4.0E-06; 3.2E-05 0.800 1.000 5 1995 2008
dbSNP: rs104894659
rs104894659
MC2R
1 1.000 0.120 18 13884918 stop gained G/A;T snv 1.2E-05; 2.0E-05 0.700 0
dbSNP: rs1476574441
rs1476574441
MRAP
1 1.000 0.120 21 32299078 splice donor variant G/- del 1.4E-05 0.700 0
dbSNP: rs1555619372
rs1555619372
MC2R
1 1.000 0.120 18 13884817 frameshift variant G/- delins 0.700 0
dbSNP: rs1555619377
rs1555619377
MC2R
1 1.000 0.120 18 13884845 missense variant A/C snv 0.700 0
dbSNP: rs1555619430
rs1555619430
MC2R
2 0.925 0.120 18 13885059 frameshift variant -/G delins 0.700 0
dbSNP: rs1555897462
rs1555897462
MRAP
1 1.000 0.120 21 32298972 start lost A/G snv 0.700 0
dbSNP: rs199950178
rs199950178
MC2R
1 1.000 0.120 18 13885095 missense variant C/A;T snv 3.6E-05 1.4E-05 0.700 0
dbSNP: rs267607231
rs267607231
MC2R
1 1.000 0.120 18 13885143 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs768093045
rs768093045
MC2R
2 0.925 0.200 18 13885212 missense variant C/G;T snv 1.6E-05 0.700 0
dbSNP: rs80358231
rs80358231
MRAP
2 0.925 0.120 21 32298974 start lost G/A snv 5.6E-05 8.4E-05 0.700 0