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: rs267607201
rs267607201
KLF1
7 0.807 0.120 19 12885001 missense variant C/T snv 0.850 1.000 7 2010 2020
dbSNP: rs387907598
rs387907598
KLF1
3 1.000 0.080 19 12885338 missense variant C/A;G snv 0.700 0
dbSNP: rs387907599
rs387907599
KLF1
3 1.000 0.080 19 12884962 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1182452266
rs1182452266
GYG1
3 0.882 0.120 3 149026904 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs768716886
rs768716886
YARS2
1 1.000 0.080 12 32750801 missense variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs942517370
rs942517370
CD44
2 0.925 0.080 11 35201757 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2013 2013