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: rs1168921011
rs1168921011
MYBPH
1 1.000 0.080 1 203171152 missense variant C/A;T snv 0.010 1.000 1 1997 1997
dbSNP: rs137852310
rs137852310
ALAS2
3 0.882 0.120 X 55021095 missense variant A/G snv 0.010 1.000 1 1999 1999
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: 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: rs35201683
rs35201683
HFE
12 0.732 0.360 6 26094205 stop gained C/A;T snv 1.4E-03 0.010 1.000 1 2001 2001
dbSNP: rs763569821
rs763569821
MUC1
4 0.851 0.160 1 155188197 missense variant T/C snv 1.2E-05 0.010 1.000 1 2001 2001
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: rs780246573
rs780246573
HFE ; LOC108783645
12 0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs80338880
rs80338880
TFR2
12 0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs199474387
rs199474387
HLA-A
6 0.807 0.240 6 29942870 missense variant G/C;T snv 0.020 1.000 2 1998 2002
dbSNP: rs1374259518
rs1374259518
HAMP
3 0.882 0.080 19 35284995 missense variant T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2004 2004
dbSNP: rs74315323
rs74315323
HJV
4 0.882 0.080 1 146018399 missense variant C/A snv 1.7E-04 2.7E-04 0.720 1.000 2 2004 2005
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: rs80338881
rs80338881
TFR2
2 0.925 0.080 7 100632099 stop gained G/A snv 0.010 1.000 1 2005 2005