KRT74, keratin 74, 121391

N. diseases: 31; N. variants: 4
Disease: ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE ×
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: rs147962513
rs147962513 		1.000 12 52571381 missense variant A/G snv 1.0E-02 1.9E-03
CUI: C3554117
Disease: ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE
ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE 		0.700 0