ATXN2L, ataxin 2 like, 11273

N. diseases: 30; N. variants: 5
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: rs12325113
rs12325113
16 28837347 upstream gene variant T/C snv 0.28
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 2 2017 2018
dbSNP: rs8049439
rs8049439
0.925 0.120 16 28826194 intron variant T/C;G snv 0.38
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 1 2017 2017