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: rs137852628
rs137852628
KRT2
1 1.000 0.080 12 52646748 missense variant C/A;T snv 4.0E-06 0.800 1.000 15 1994 2005
dbSNP: rs137852629
rs137852629
KRT2
2 0.925 0.080 12 52646750 stop gained C/A;T snv 0.800 1.000 15 1994 2005
dbSNP: rs137852630
rs137852630
KRT2
1 1.000 0.080 12 52646774 missense variant T/C;G snv 0.800 1.000 15 1994 2005
dbSNP: rs137852631
rs137852631
KRT2
1 1.000 0.080 12 52651587 missense variant T/A;C snv 0.800 1.000 15 1994 2005
dbSNP: rs137852632
rs137852632
KRT2
1 1.000 0.080 12 52651585 missense variant G/T snv 0.800 1.000 15 1994 2005
dbSNP: rs57510142
rs57510142
KRT2
1 1.000 0.080 12 52651601 missense variant T/A;G snv 0.800 1.000 15 1994 2005
dbSNP: rs56829062
rs56829062
KRT2
2 0.925 0.080 12 52646783 missense variant C/T snv 0.800 0
dbSNP: rs758760389
rs758760389
KRT2
1 1.000 0.080 12 52646816 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 15 1994 2005
dbSNP: rs60537449
rs60537449
KRT2
1 1.000 0.080 12 52646782 missense variant T/A snv 0.700 0
dbSNP: rs61622714
rs61622714
KRT2
1 1.000 0.080 12 52651598 missense variant A/T snv 0.700 0
dbSNP: rs61726451
rs61726451
KRT2
1 1.000 0.080 12 52646758 missense variant A/G snv 0.700 0
dbSNP: rs61726452
rs61726452
KRT2
1 1.000 0.080 12 52646747 missense variant C/T snv 0.700 0