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: rs137852310
rs137852310
ALAS2
3 0.882 0.120 X 55021095 missense variant A/G snv 0.810 1.000 1 1999 1999
dbSNP: rs137852299
rs137852299
ALAS2
1 1.000 0.080 X 55014757 missense variant A/T snv 0.800 0
dbSNP: rs137852300
rs137852300
ALAS2
1 1.000 0.080 X 55015583 missense variant G/C snv 0.800 0
dbSNP: rs137852301
rs137852301
ALAS2
1 1.000 0.080 X 55021195 missense variant G/T snv 0.800 0
dbSNP: rs137852305
rs137852305
ALAS2
1 1.000 0.080 X 55014953 missense variant G/A snv 0.800 0
dbSNP: rs137852308
rs137852308
ALAS2
1 1.000 0.080 X 55021215 missense variant C/A;T snv 0.800 0
dbSNP: rs137852311
rs137852311
ALAS2
3 0.882 0.120 X 55014830 missense variant G/A;T snv 0.800 0
dbSNP: rs137852306
rs137852306
ALAS2 ; APEX2
1 1.000 0.080 X 55009242 stop lost T/C snv 0.710 1.000 1 2017 2017
dbSNP: rs185504937
rs185504937
ALAS2
1 1.000 0.080 X 55020490 missense variant C/T snv 4.4E-04 5.1E-04 0.700 1.000 10 1992 2011
dbSNP: rs201062903
rs201062903
ALAS2
3 0.882 0.120 X 55013527 missense variant G/A snv 1.3E-03 1.2E-03 0.700 1.000 10 1992 2011
dbSNP: rs863223904
rs863223904
ALAS2
5 0.827 0.200 X 55014829 missense variant C/T snv 6.1E-06 0.700 1.000 10 1992 2011
dbSNP: rs892041887
rs892041887
ALAS2 ; APEX2
2 0.925 0.080 X 55009265 missense variant C/T snv 0.700 1.000 10 1992 2011
dbSNP: rs1338391423
rs1338391423
ALAS2
1 1.000 0.080 X 55021079 missense variant C/T snv 5.5E-06 0.700 0
dbSNP: rs137852302
rs137852302
ALAS2
1 1.000 0.080 X 55017618 missense variant C/T snv 0.700 0
dbSNP: rs137852303
rs137852303
ALAS2
1 1.000 0.080 X 55017594 missense variant T/G snv 0.700 0
dbSNP: rs137852304
rs137852304
ALAS2
1 1.000 0.080 X 55021176 missense variant C/T snv 1.1E-05 0.700 0
dbSNP: rs137852307
rs137852307
ALAS2
1 1.000 0.080 X 55015000 missense variant C/T snv 0.700 0
dbSNP: rs137852309
rs137852309
ALAS2
1 1.000 0.080 X 55013516 missense variant G/C snv 0.700 0
dbSNP: rs1557248142
rs1557248142
ALAS2
2 0.925 0.080 X 55021182 missense variant G/T snv 0.700 0
dbSNP: rs28935484
rs28935484
ALAS2
1 1.000 0.080 X 55021121 missense variant T/A snv 0.700 0
dbSNP: rs145704441
rs145704441
ALAS2 ; APEX2
1 1.000 0.080 X 55009268 missense variant C/G;T snv 2.3E-03 0.010 1.000 1 2019 2019
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 1999 1999
dbSNP: rs863223906
rs863223906
ALAS2 ; APEX2
1 1.000 0.080 X 55009245 missense variant T/C snv 0.010 1.000 1 2012 2012