Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518798
rs1057518798
PPOX ; B4GALT3
1.000 0.120 1 161170939 stop gained G/A snv
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		0.700 0
dbSNP: rs119103263
rs119103263
MFN2
0.827 0.240 1 11992659 missense variant C/T snv
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		0.700 0
dbSNP: rs121912854
rs121912854
COL7A1
0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		0.700 0
dbSNP: rs121912855
rs121912855
COL7A1
0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		0.700 0
dbSNP: rs144023803
rs144023803
COL7A1
0.776 0.120 3 48590721 stop gained G/A snv 3.6E-05 2.1E-05
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		0.700 0
dbSNP: rs148292941
rs148292941
PPOX ; B4GALT3
1 161171095 stop gained T/C;G snv 8.0E-06 6.3E-05
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		0.700 0
dbSNP: rs1553612617
rs1553612617
COL7A1
1.000 0.080 3 48586983 stop gained G/A snv
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		0.700 0
dbSNP: rs1559435706
rs1559435706
COL7A1
1.000 0.080 3 48591936 frameshift variant T/- del
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		0.700 0
dbSNP: rs765243124
rs765243124
COL17A1
0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		0.700 0
dbSNP: rs780261665
rs780261665
COL7A1
0.827 0.200 3 48590258 stop gained G/A snv 2.0E-05 1.4E-05
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		0.700 0