KRT25, keratin 25, 147183

N. diseases: 25; N. variants: 3
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: rs879253749
rs879253749 		1.000 17 40751284 missense variant C/A snv
CUI: C4225214
Disease: WOOLLY HAIR, AUTOSOMAL RECESSIVE 3
WOOLLY HAIR, AUTOSOMAL RECESSIVE 3 		0.800 1.000 3 2015 2018
dbSNP: rs766783183
rs766783183 		0.925 0.040 17 40750961 missense variant A/G snv 3.6E-05 7.0E-06
CUI: C4225214
Disease: WOOLLY HAIR, AUTOSOMAL RECESSIVE 3
WOOLLY HAIR, AUTOSOMAL RECESSIVE 3 		0.800 0
dbSNP: rs766783183
rs766783183 		0.925 0.040 17 40750961 missense variant A/G snv 3.6E-05 7.0E-06
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8 		Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs72821893
rs72821893 		0.925 0.040 17 40751196 missense variant C/A;T snv 1.4E-02
CUI: C0001342
Disease: Acute periodontitis
Acute periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2020 2020
dbSNP: rs72821893
rs72821893 		0.925 0.040 17 40751196 missense variant C/A;T snv 1.4E-02
CUI: C0031106
Disease: Aggressive Periodontitis
Aggressive Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2020 2020