Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.900 0.976 248 1996 2019
dbSNP: rs111033563
rs111033563
HFE ; LOC108783645
0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.810 1.000 18 1996 2008
dbSNP: rs28934597
rs28934597
HFE ; LOC108783645
0.925 0.080 6 26091041 missense variant G/C snv 1.2E-05 7.0E-06
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.810 1.000 18 1996 2008
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.800 0.960 99 1996 2019
dbSNP: rs111033558
rs111033558
HFE
1.000 0.080 6 26093215 missense variant G/C;T snv
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.800 1.000 18 1996 2008
dbSNP: rs28934595
rs28934595
HFE ; LOC108783645
0.925 0.160 6 26091354 missense variant A/C snv
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.800 1.000 18 1996 2008
dbSNP: rs28934596
rs28934596
HFE ; LOC108783645
1.000 0.080 6 26091078 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.800 1.000 18 1996 2008
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.760 0.857 7 1999 2012
dbSNP: rs146519482
rs146519482
HFE ; LOC108783645
0.925 0.080 6 26091475 stop gained G/C;T snv 4.5E-04
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.710 1.000 2 2000 2002
dbSNP: rs143175221
rs143175221
HFE ; LOC108783645
0.827 0.200 6 26092952 missense variant T/C snv 8.4E-04 5.6E-04
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.700 1.000 18 1996 2008
dbSNP: rs149342416
rs149342416
HFE ; LOC108783645
1.000 0.080 6 26087458 missense variant G/C snv 6.9E-04 7.0E-04
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.700 1.000 18 1996 2008
dbSNP: rs3811647
rs3811647
TF
0.807 0.120 3 133765185 intron variant G/A snv 0.31
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.700 1.000 1 2015 2015
dbSNP: rs797045145
rs797045145
HFE ; LOC108783645
0.807 0.240 6 26091479 stop gained G/A snv
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.700 1.000 1 2000 2000
dbSNP: rs1561939338
rs1561939338
HFE ; LOC108783645
1.000 0.080 6 26090839 splice acceptor variant AGGT/TGGAGTC delins
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.700 0
dbSNP: rs747739169
rs747739169
HFE ; LOC108783645
1.000 0.080 6 26090960 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.700 0
dbSNP: rs763369315
rs763369315
HAMP
1.000 0.080 19 35285003 stop gained C/A;T snv 4.0E-06
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.700 0
dbSNP: rs1275561861
rs1275561861
HLA-A
0.672 0.360 6 29944350 missense variant G/A snv
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.090 0.889 9 2001 2017
dbSNP: rs35201683
rs35201683
HFE
0.732 0.360 6 26094205 stop gained C/A;T snv 1.4E-03
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.030 1.000 3 2001 2003
dbSNP: rs780246573
rs780246573
HFE ; LOC108783645
0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.030 1.000 3 2001 2003
dbSNP: rs80338880
rs80338880
TFR2
0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.030 1.000 3 2001 2003
dbSNP: rs11558492
rs11558492
GNPAT
0.827 0.200 1 231272345 missense variant A/G;T snv 0.16
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.020 0.500 2 2017 2017
dbSNP: rs1424266770
rs1424266770
CASP3
0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.020 1.000 2 2011 2014
dbSNP: rs199474387
rs199474387
HLA-A
0.807 0.240 6 29942870 missense variant G/C;T snv
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.020 1.000 2 1998 2002
dbSNP: rs855791
rs855791
TMPRSS6
0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.020 1.000 2 2014 2019
dbSNP: rs104893662
rs104893662
SLC40A1
0.851 0.080 2 189571799 missense variant T/A;G snv
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.010 1.000 1 2003 2003