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: rs58293603
rs58293603
KRT16
1 1.000 0.080 17 41612318 missense variant A/C;G;T snv 0.810 1.000 1 2000 2000
dbSNP: rs28928894
rs28928894
KRT16
1 1.000 0.080 17 41612327 missense variant A/C;G;T snv 0.800 1.000 12 1995 2013
dbSNP: rs28928895
rs28928895
KRT16
3 0.882 0.120 17 41612306 missense variant A/G;T snv 0.800 1.000 12 1995 2013
dbSNP: rs57424749
rs57424749
KRT16
1 1.000 0.080 17 41612309 missense variant C/G;T snv 8.0E-06 0.800 1.000 12 1995 2013
dbSNP: rs58608173
rs58608173
KRT16
1 1.000 0.080 17 41612316 missense variant T/C snv 0.800 1.000 12 1995 2013
dbSNP: rs587777717
rs587777717
KRT16
1 1.000 0.080 17 41612315 missense variant TT/CC mnv 0.800 1.000 12 1995 2013
dbSNP: rs60723330
rs60723330
KRT16
2 0.925 0.120 17 41612315 missense variant T/C snv 0.800 1.000 12 1995 2013
dbSNP: rs58181827
rs58181827
KRT16
1 1.000 0.080 17 41612298 inframe deletion AGG/- delins 0.700 0
dbSNP: rs59328451
rs59328451
KRT16
1 1.000 0.080 17 41610549 missense variant T/A snv 2.5E-04 1.1E-03 0.700 0
dbSNP: rs59349773
rs59349773
KRT16
1 1.000 0.080 17 41612324 missense variant T/C;G snv 1.2E-05 0.700 0
dbSNP: rs59856285
rs59856285
KRT16
2 0.925 0.120 17 41612310 missense variant G/A;C snv 0.700 0
dbSNP: rs60944949
rs60944949
KRT16
1 1.000 0.080 17 41612294 missense variant A/G snv 0.700 0
dbSNP: rs1044498
rs1044498
ENPP1
15 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 0.010 1.000 1 2008 2008
dbSNP: rs1044548
rs1044548
ENPP1
1 1.000 0.080 6 131890623 3 prime UTR variant G/A snv 0.12 0.010 1.000 1 2008 2008
dbSNP: rs11964389
rs11964389
ENPP1
1 1.000 0.080 6 131890632 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1799774
rs1799774
ENPP1
3 0.882 0.200 6 131882331 intron variant T/- delins 0.010 1.000 1 2008 2008
dbSNP: rs59018888
rs59018888
KRT6A
2 0.925 0.080 12 52488349 missense variant A/G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs7754561
rs7754561
ENPP1
3 0.882 0.200 6 131891554 3 prime UTR variant A/G snv 0.44 0.010 1.000 1 2008 2008
dbSNP: rs997509
rs997509
ENPP1
6 0.827 0.200 6 131846837 intron variant C/T snv 5.3E-02 0.010 1.000 1 2008 2008