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: rs1057518863
rs1057518863
COL7A1
0.925 0.120 3 48567190 missense variant C/A;T snv
CUI: C4024876
Disease: Palmoplantar blistering
Palmoplantar blistering 		0.700 0
dbSNP: rs59966597
rs59966597
KRT14
1.000 0.080 17 41583347 missense variant G/A;C snv 4.0E-06
CUI: C4024876
Disease: Palmoplantar blistering
Palmoplantar blistering 		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: C4024876
Disease: Palmoplantar blistering
Palmoplantar blistering 		0.700 0