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: rs10823343
rs10823343
HK1
1 10 69331257 intron variant A/G snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs1402837
rs1402837
SPC25 ; G6PC2
1 2 168900844 intron variant C/T snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs148228241
rs148228241
HBA1
1 16 177188 non coding transcript exon variant G/T snv 1.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs5030868
rs5030868
G6PD
9 0.827 0.160 X 154534419 missense variant G/A snv 2.6E-03 4.8E-04 0.700 1.000 1 2015 2015
dbSNP: rs570013781
rs570013781
NPRL3
2 16 99541 intron variant G/A snv 2.1E-03 0.700 1.000 1 2015 2015
dbSNP: rs6724428
rs6724428
GULP1
1 2 188512782 intron variant A/G snv 0.54 0.700 1.000 1 2019 2019