rs781767722, GJB2

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.
Ichthyosis follicularis atrichia photophobia syndrome
CUI: C1839988
Disease: Ichthyosis follicularis atrichia photophobia syndrome
7 1.000 0.200 13 20189056 missense variant T/C snv 4.0E-06 0.700 0