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: rs11634944
rs11634944
SNRPN ; SNHG14
1 15 24937946 intron variant T/C snv 0.34 0.700 1.000 1 2017 2017
dbSNP: rs12075
rs12075
ACKR1 ; CADM3-AS1
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.700 1.000 1 2017 2017
dbSNP: rs2673604
rs2673604
KCNQ3
1 8 132399360 intron variant C/A snv 0.62 0.700 1.000 1 2017 2017
dbSNP: rs74439372
rs74439372
TRIM5 ; TRIM6-TRIM34
1 11 5615470 intron variant AC/- delins 0.80 0.700 1.000 1 2017 2017
dbSNP: rs75603564
rs75603564
LOC105370615
2 14 89038109 intergenic variant C/T snv 3.4E-02 0.700 1.000 1 2018 2018