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: rs750609759
rs750609759
TFR2
1 1.000 0.080 7 100627822 splice acceptor variant T/C snv 1.6E-05 7.0E-06 0.700 1.000 2 2013 2015
dbSNP: rs786204108
rs786204108
TFR2
1 1.000 0.080 7 100626866 missense variant C/G;T snv 1.3E-05 0.700 1.000 2 2013 2015
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: 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: 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: rs765166469
rs765166469
UBL5
1 1.000 0.080 19 9829976 missense variant G/C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs773624350
rs773624350
HFE ; LOC108783645
1 1.000 0.080 6 26092887 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1051249273
rs1051249273
TFR2
1 1.000 0.080 7 100626885 stop gained G/A;T snv 4.8E-05 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: 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: 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
dbSNP: rs777018511
rs777018511
HFE ; LOC108783645
2 0.925 0.080 6 26091451 frameshift variant C/- delins 1.2E-05 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs781959255
rs781959255
HJV
2 0.925 0.080 1 146019321 missense variant C/T snv 8.1E-06 0.010 1.000 1 2011 2011
dbSNP: rs80338881
rs80338881
TFR2
2 0.925 0.080 7 100632099 stop gained G/A snv 0.010 1.000 1 2005 2005
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: rs387907377
rs387907377
SLC40A1
3 0.882 0.080 2 189565504 missense variant C/T snv 8.0E-06 0.010 1.000 1 2011 2011