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: rs137853598
rs137853598
C1GALT1C1
1 1.000 0.040 X 120626965 stop gained G/A snv 0.700 0
dbSNP: rs17261572
rs17261572
C1GALT1C1
1 1.000 0.040 X 120626774 missense variant A/T snv 0.20 0.16 0.700 0
dbSNP: rs587776928
rs587776928
C1GALT1C1
1 1.000 0.040 X 120627164 start lost C/G snv 0.700 0
dbSNP: rs137853599
rs137853599
C1GALT1C1
1 1.000 0.040 X 120626713 missense variant C/T snv 0.800 1.000 2 2005 2008
dbSNP: rs397514537
rs397514537
C1GALT1C1
1 1.000 0.040 X 120626590 missense variant A/G snv 0.800 1.000 2 2005 2008