KRT74, keratin 74, 121391

N. diseases: 31; N. variants: 4
Disease: WOOLLY HAIR, AUTOSOMAL DOMINANT ×
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: rs267607205
rs267607205 		1.000 12 52573334 missense variant G/A;C;T snv 2.4E-05
CUI: C1860238
Disease: WOOLLY HAIR, AUTOSOMAL DOMINANT
WOOLLY HAIR, AUTOSOMAL DOMINANT 		0.800 1.000 1 2010 2010
dbSNP: rs267607478
rs267607478 		1.000 12 52567169 splice acceptor variant C/T snv
CUI: C1860238
Disease: WOOLLY HAIR, AUTOSOMAL DOMINANT
WOOLLY HAIR, AUTOSOMAL DOMINANT 		0.700 0