rs147040026, COL7A1

N. diseases: 4
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.
Abnormality of the thyroid gland
CUI: C4317107
Disease: Abnormality of the thyroid gland
2 0.882 0.120 3 48591738 missense variant C/G;T snv 4.0E-06; 1.6E-05 0.700 0
Hyperkeratosis, Epidermolytic
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
35 0.882 0.120 3 48591738 missense variant C/G;T snv 4.0E-06; 1.6E-05 0.700 0
Ichthyoses
CUI: C0020757
Disease: Ichthyoses
18 0.882 0.120 3 48591738 missense variant C/G;T snv 4.0E-06; 1.6E-05 0.700 0
NEVUS, EPIDERMAL (disorder)
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
17 0.882 0.120 3 48591738 missense variant C/G;T snv 4.0E-06; 1.6E-05 0.700 0