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: rs377546036
rs377546036
CANT1
3 0.882 0.160 17 78995177 missense variant C/T snv 2.8E-05 3.5E-05 0.020 1.000 2 2011 2015
dbSNP: rs746391651
rs746391651
CSGALNACT1
1 1.000 0.160 8 19418732 missense variant G/C snv 2.4E-05 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs774568856
rs774568856
PGM3
4 0.882 0.200 6 83174481 missense variant A/G snv 1.7E-05 7.0E-06 0.010 1.000 1 2017 2017