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: rs165815
rs165815
ARVCF
5 0.882 0.120 22 19971950 missense variant C/T snv 0.75 0.72 0.010 1.000 1 2010 2010
dbSNP: rs165849
rs165849
ARVCF
2 1.000 0.040 22 19971146 intron variant G/A snv 0.55 0.010 1.000 1 2010 2010
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs35219372
rs35219372
ARVCF
1 22 19971288 synonymous variant C/A;G;T snv 6.1E-06; 6.1E-06; 1.7E-02 0.010 1.000 1 2010 2010
dbSNP: rs5993890
rs5993890
ARVCF
1 22 19971306 synonymous variant G/A;C snv 6.7E-02; 1.2E-05 0.010 1.000 1 2010 2010