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: rs104894201
rs104894201
CRYAB
0.763 0.280 11 111908934 missense variant T/C snv
CUI: C1837317
Disease: Alpha-B Crystallinopathy
Alpha-B Crystallinopathy 		0.800 1.000 0 1998 2012
dbSNP: rs104894201
rs104894201
CRYAB
0.763 0.280 11 111908934 missense variant T/C snv
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 0