rs121912994, DSP

N. diseases: 1
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 Fragility-Woolly Hair Syndrome
CUI: C1843292
Disease: Skin Fragility-Woolly Hair Syndrome
7 1.000 0.080 6 7574786 stop gained T/A snv 0.700 0