Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894826
rs104894826
GJB1
0.882 0.080 X 71224114 missense variant T/C snv
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		0.800 1.000 0 1994 2005
dbSNP: rs104894826
rs104894826
GJB1
0.882 0.080 X 71224114 missense variant T/C snv
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		0.800 1.000 0 2005 2005