ATXN1, ataxin 1, 6310

N. diseases: 218; N. variants: 24
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: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure)
0.700 1.000 1 2016 2016
dbSNP: rs562760
rs562760
6 16749780 intron variant G/C;T snv 0.55
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure)
0.700 1.000 1 2018 2018