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: rs1051249273
rs1051249273
TFR2
1 1.000 0.080 7 100626885 stop gained G/A;T snv 4.8E-05 0.700 0
dbSNP: rs121434374
rs121434374
HJV
4 0.851 0.080 1 146018395 stop gained G/C;T snv 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs1220336558
rs1220336558
TFR2
1 1.000 0.080 7 100627389 stop gained G/A snv 5.9E-06 0.700 0
dbSNP: rs1426704853
rs1426704853
TFR2
1 1.000 0.080 7 100641009 frameshift variant G/- delins 0.700 0
dbSNP: rs1554154042
rs1554154042
HFE ; LOC108783645
1 1.000 0.080 6 26092828 frameshift variant A/- delins 0.700 0
dbSNP: rs1562838535
rs1562838535
TFR2
1 1.000 0.080 7 100627598 frameshift variant G/- delins 0.700 0
dbSNP: rs749553271
rs749553271
HFE ; LOC108783645
1 1.000 0.080 6 26092960 stop gained G/T snv 2.1E-05 0.700 0
dbSNP: rs765804978
rs765804978
HFE ; LOC108783645
1 1.000 0.080 6 26091519 frameshift variant CC/- del 0.700 0
dbSNP: rs772104483
rs772104483
TFR2
1 1.000 0.080 7 100628288 missense variant C/A snv 8.0E-06 0.700 0
dbSNP: rs773050231
rs773050231
TFR2
1 1.000 0.080 7 100628299 frameshift variant C/- delins 1.1E-04 0.700 0
dbSNP: rs3811647
rs3811647
TF
15 0.807 0.120 3 133765185 intron variant G/A snv 0.31 0.710 1.000 1 2015 2015
dbSNP: rs1048230
rs1048230
SLC11A2
5 0.827 0.160 12 50992283 synonymous variant A/G snv 0.17 0.15 0.010 < 0.001 1 2000 2000
dbSNP: rs111033563
rs111033563
HFE ; LOC108783645
8 0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1167115018
rs1167115018
HFE ; LOC108783645
5 0.827 0.160 6 26092760 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1168921011
rs1168921011
MYBPH
1 1.000 0.080 1 203171152 missense variant C/A;T snv 0.010 1.000 1 1997 1997
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1374259518
rs1374259518
HAMP
3 0.882 0.080 19 35284995 missense variant T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs137852310
rs137852310
ALAS2
3 0.882 0.120 X 55021095 missense variant A/G snv 0.010 1.000 1 1999 1999
dbSNP: rs1397742363
rs1397742363
MAP3K8
1 1.000 0.080 10 30451716 missense variant A/G snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs140080192
rs140080192
HFE ; LOC108783645
1 1.000 0.080 6 26092897 missense variant G/A;C snv 3.6E-03 0.010 1.000 1 2012 2012
dbSNP: rs143496559
rs143496559
HJV
2 0.925 0.080 1 146018454 missense variant C/T snv 2.9E-04 5.2E-04 0.010 1.000 1 2011 2011
dbSNP: rs144848
rs144848
BRCA2
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2006 2006
dbSNP: rs200249435
rs200249435
TFR2
5 0.827 0.200 7 100641071 missense variant G/A;C snv 4.2E-06; 8.3E-06 0.010 1.000 1 2015 2015
dbSNP: rs202068193
rs202068193
HFE ; LOC108783645
1 1.000 0.080 6 26092834 missense variant G/A snv 5.6E-05 1.4E-05 0.010 < 0.001 1 2010 2010
dbSNP: rs2111833
rs2111833
TMPRSS6
2 1.000 0.080 22 37084757 synonymous variant C/G;T snv 0.31 0.010 1.000 1 2015 2015