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: rs1114167422
rs1114167422
DKC1 ; SNORA56
11 0.776 0.320 X 154773148 missense variant A/G snv 0.700 0
dbSNP: rs119103263
rs119103263
MFN2
19 0.827 0.240 1 11992659 missense variant C/T snv 0.700 0
dbSNP: rs121912854
rs121912854
COL7A1
16 0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs121912855
rs121912855
COL7A1
16 0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs121912856
rs121912856
COL7A1
13 0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05 0.700 0
dbSNP: rs765243124
rs765243124
COL17A1
14 0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06 0.700 0
dbSNP: rs780261665
rs780261665
COL7A1
9 0.827 0.200 3 48590258 stop gained G/A snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs121912834
rs121912834
COL7A1
6 0.827 0.120 3 48572941 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs141480813
rs141480813
AIRE
4 0.882 0.080 21 44289752 missense variant A/T snv 2.8E-05 1.5E-04 0.010 1.000 1 2014 2014