ATXN1, ataxin 1, 6310

N. diseases: 218; N. variants: 24
Disease: White Blood Cell Count procedure ×
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: rs1144700
rs1144700 		6 16744456 intron variant C/G;T snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 2 2016 2019
dbSNP: rs1322599
rs1322599 		6 16758194 intron variant C/T snv 0.20
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2018 2018