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: rs2070074
rs2070074
GALT
12 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.010 1.000 1 1996 1996
dbSNP: rs2275558
rs2275558
PBX1
5 0.882 0.200 1 164559883 missense variant G/A snv 0.30 0.19 0.010 1.000 1 2015 2015
dbSNP: rs34072914
rs34072914
WNT9B ; LRRC37A2
1 1.000 0.160 17 46875165 synonymous variant G/T snv 2.7E-02 3.3E-02 0.010 1.000 1 2015 2015