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: rs1013940
rs1013940
SLC5A7
6 0.827 0.160 2 107992192 missense variant A/G snv 9.3E-02 7.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs116840817
rs116840817
GJB1
3 0.925 0.080 X 71223852 missense variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs3784867
rs3784867
ABCC1
1 1.000 0.040 16 16109488 intron variant C/T snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs80359890
rs80359890
SH3TC2
4 0.851 0.080 5 149042718 missense variant A/G snv 1.6E-03; 4.0E-06 2.0E-03 0.010 1.000 1 2016 2016