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: rs1057518843
rs1057518843
GALC
19 0.790 0.240 14 87988523 missense variant C/T snv 0.700 0
dbSNP: rs1553759139
rs1553759139
PDCD10
5 0.925 0.400 3 167687610 splice region variant C/T snv 0.700 0
dbSNP: rs1555377415
rs1555377415
IRF2BPL ; LOC107984638
18 0.827 0.200 14 77027274 stop gained G/C snv 0.700 0
dbSNP: rs377274761
rs377274761
GALC
20 0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 0.700 0
dbSNP: rs730882225
rs730882225
NID1
3 0.925 0.040 1 235980495 splice donor variant C/T snv 4.0E-06 0.700 0
dbSNP: rs121918097
rs121918097
TTR
10 0.790 0.280 18 31595137 missense variant G/A snv 0.010 1.000 1 2016 2016