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: rs752423472
rs752423472
PKLR
3 0.882 0.160 1 155294284 missense variant A/C;G snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs104894102
rs104894102
AK1
3 0.882 0.040 9 127871828 stop gained G/A snv 0.010 1.000 1 1999 1999
dbSNP: rs137853203
rs137853203
AK1
2 0.925 0.040 9 127868346 missense variant T/C snv 4.3E-06 0.010 1.000 1 2007 2007
dbSNP: rs774455945
rs774455945
KCNN4
2 0.925 0.040 19 43769027 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs979416826
rs979416826
G6PD
1 1.000 0.040 X 154535247 missense variant G/A snv 0.010 1.000 1 2012 2012