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: rs1566974586
rs1566974586
GALC
3 1.000 0.120 14 87947823 missense variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1567871748
rs1567871748
PGAP3
4 1.000 17 39674043 stop gained G/T snv 0.700 1.000 1 2019 2019
dbSNP: rs1566528711
rs1566528711
GJB2
6 0.851 0.240 13 20189338 missense variant T/C snv 0.700 0
dbSNP: rs121918080
rs121918080
TTR
6 0.827 0.240 18 31595128 missense variant G/A;T snv 2.4E-05 0.010 1.000 1 2000 2000