CDSN, corneodesmosin, 1041

N. diseases: 101; N. variants: 46
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121917819
rs121917819
1.000 0.040 6 31116972 stop gained G/A;C snv
CUI: C1840299
Disease: Hypotrichosis Simplex of Scalp
Hypotrichosis Simplex of Scalp
Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121917820
rs121917820
0.925 0.040 6 31117017 stop gained G/A snv
CUI: C1840299
Disease: Hypotrichosis Simplex of Scalp
Hypotrichosis Simplex of Scalp
Skin and Connective Tissue Diseases 0.700 0