rs780261665, COL7A1

N. diseases: 9
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Skin Erosion
CUI: C3887524
Disease: Skin Erosion
2 0.827 0.200 3 48590258 stop gained G/A snv 2.0E-05 1.4E-05 0.700 0
Palmoplantar blistering
CUI: C4024876
Disease: Palmoplantar blistering
3 0.827 0.200 3 48590258 stop gained G/A snv 2.0E-05 1.4E-05 0.700 0
Dystrophia unguium
CUI: C0221260
Disease: Dystrophia unguium
9 0.827 0.200 3 48590258 stop gained G/A snv 2.0E-05 1.4E-05 0.700 0
Abnormal blistering of the skin
CUI: C2132198
Disease: Abnormal blistering of the skin
10 0.827 0.200 3 48590258 stop gained G/A snv 2.0E-05 1.4E-05 0.700 0
Syndactyly of the toes
CUI: C0265660
Disease: Syndactyly of the toes
11 0.827 0.200 3 48590258 stop gained G/A snv 2.0E-05 1.4E-05 0.700 0
Syndactyly of fingers
CUI: C0221352
Disease: Syndactyly of fingers
12 0.827 0.200 3 48590258 stop gained G/A snv 2.0E-05 1.4E-05 0.700 0
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
13 0.827 0.200 3 48590258 stop gained G/A snv 2.0E-05 1.4E-05 0.700 0
Skin Abnormalities
CUI: C0037268
Disease: Skin Abnormalities
16 0.827 0.200 3 48590258 stop gained G/A snv 2.0E-05 1.4E-05 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.827 0.200 3 48590258 stop gained G/A snv 2.0E-05 1.4E-05 0.700 0