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: rs80338880
rs80338880
TFR2
12 0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06 0.020 1.000 2 2006 2008
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 2008 2008
dbSNP: rs781933275
rs781933275
HJV
1 1.000 0.160 1 146019620 missense variant C/A snv 8.1E-06 0.010 1.000 1 2008 2008
dbSNP: rs17838832
rs17838832
CP
1 1.000 0.160 3 149222146 upstream gene variant A/G snv 6.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs13015236
rs13015236
SLC40A1
1 1.000 0.160 2 189581210 intron variant C/T snv 0.50 0.010 1.000 1 2018 2018
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.100 0.909 11 1998 2014
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.020 1.000 2 2003 2008
dbSNP: rs899673013
rs899673013
HFE ; LOC108783645
1 1.000 0.160 6 26091530 missense variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs780246573
rs780246573
HFE ; LOC108783645
12 0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.020 1.000 2 2006 2008
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.100 0.889 18 1998 2014
dbSNP: rs35201683
rs35201683
HFE
12 0.732 0.360 6 26094205 stop gained C/A;T snv 1.4E-03 0.020 1.000 2 2006 2008
dbSNP: rs104894696
rs104894696
HAMP
2 0.925 0.160 19 35284999 missense variant G/A snv 1.7E-03 1.9E-03 0.010 1.000 1 2008 2008
dbSNP: rs767080313
rs767080313
HAMP
1 1.000 0.160 19 35285035 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs397514764
rs397514764
UROD ; HECTD3
1 1.000 0.160 1 45012271 frameshift variant AGCGAATGGG/- del 0.700 0
dbSNP: rs764268015
rs764268015
UROD ; HECTD3
1 1.000 0.160 1 45012960 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 10 1989 2001
dbSNP: rs769378741
rs769378741
UROD ; HECTD3
2 0.925 0.160 1 45013140 missense variant T/A;C snv 8.0E-06 0.700 1.000 10 1986 2011
dbSNP: rs121918060
rs121918060
UROD ; HECTD3
2 0.925 0.160 1 45013187 missense variant C/T snv 0.700 1.000 10 1986 2011
dbSNP: rs376921379
rs376921379
UROD ; HECTD3
1 1.000 0.160 1 45013316 missense variant G/T snv 1.2E-05 3.5E-05 0.700 1.000 10 1989 2001
dbSNP: rs776907084
rs776907084
UROD ; HECTD3
2 0.925 0.160 1 45013317 missense variant C/G snv 4.0E-06 1.4E-05 0.700 1.000 10 1986 2011
dbSNP: rs397514765
rs397514765
UROD
1 1.000 0.160 1 45013663 stop gained C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1182234844
rs1182234844
UROD
1 1.000 0.160 1 45013742 missense variant G/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs762617943
rs762617943
UROD
1 1.000 0.160 1 45013784 missense variant G/A snv 8.0E-06 0.700 1.000 10 1989 2001
dbSNP: rs121918063
rs121918063
UROD
1 1.000 0.160 1 45013928 missense variant T/G snv 4.0E-06 7.0E-06 0.800 1.000 10 1989 2001
dbSNP: rs121918058
rs121918058
UROD
2 0.925 0.160 1 45013933 missense variant G/A snv 0.700 1.000 19 1986 2011
dbSNP: rs121918064
rs121918064
UROD
1 1.000 0.160 1 45014017 missense variant C/G;T snv 0.800 1.000 10 1989 2001