Gene: AACS ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs10773145
rs10773145
AACS
1 1.000 0.040 12 125141057 non coding transcript exon variant T/C snv 0.46 0.700 1.000 1 2017 2017
dbSNP: rs10846834
rs10846834
AACS
1 1.000 0.040 12 125141024 non coding transcript exon variant A/G snv 0.47 0.700 1.000 1 2017 2017
dbSNP: rs11058042
rs11058042
AACS
1 1.000 0.040 12 125130698 intron variant C/T snv 0.10 0.700 1.000 1 2017 2017
dbSNP: rs12578446
rs12578446
AACS
1 1.000 0.040 12 125121341 non coding transcript exon variant A/G snv 0.23 0.700 1.000 1 2017 2017
dbSNP: rs2297479
rs2297479
AACS
1 1.000 0.040 12 125106704 intron variant C/T snv 5.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs3751180
rs3751180
AACS
1 1.000 0.040 12 125142139 synonymous variant C/A;T snv 4.9E-02 5.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs7136333
rs7136333
AACS
1 1.000 0.040 12 125118430 non coding transcript exon variant A/G snv 7.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs7970738
rs7970738
AACS
1 1.000 0.040 12 125133371 intron variant T/G snv 4.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs900411
rs900411
AACS
1 1.000 0.040 12 125128293 intron variant G/A;C snv 0.33; 4.1E-06 0.700 1.000 1 2017 2017