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: rs121434643
rs121434643
GJA8
4 0.851 0.200 1 147908094 missense variant G/A;C snv 0.800 1.000 10 1998 2013
dbSNP: rs80358200
rs80358200
GJA8 ; LOC105371229
1 1.000 0.040 1 147908217 missense variant C/T snv 0.800 0
dbSNP: rs80358201
rs80358201
GJA8
2 0.925 0.200 1 147908097 missense variant G/A snv 0.800 0
dbSNP: rs80358203
rs80358203
GJA8
1 1.000 0.040 1 147908023 missense variant G/C snv 0.800 0
dbSNP: rs80358204
rs80358204
GJA8
1 1.000 0.040 1 147908086 missense variant T/A snv 0.800 0
dbSNP: rs80358205
rs80358205
GJA8 ; LOC105371229
2 0.925 0.080 1 147908548 missense variant G/A snv 0.800 0
dbSNP: rs864309688
rs864309688
GJA8
3 0.882 0.200 1 147908089 missense variant G/C snv 7.0E-06 0.700 1.000 4 2008 2016
dbSNP: rs397515627
rs397515627
GJA8 ; LOC105371229
1 1.000 0.040 1 147908521 missense variant C/T snv 0.700 0
dbSNP: rs45619342
rs45619342
GJA8 ; LOC105371229
1 1.000 0.040 1 147908782 missense variant C/T snv 0.700 0
dbSNP: rs760755004
rs760755004
IL2RG
2 0.925 0.080 X 71110182 missense variant G/A snv 1.1E-05 0.010 1.000 1 2006 2006