FECH, ferrochelatase, 2235

N. diseases: 88; N. variants: 25
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs118204039
rs118204039 		0.925 0.160 18 57550734 missense variant A/G snv
CUI: C4692546
Disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1
PROTOPORPHYRIA, ERYTHROPOIETIC, 1 		0.800 1.000 13 1991 2007
dbSNP: rs118204040
rs118204040 		1.000 18 57551367 missense variant A/C snv
CUI: C4692546
Disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1
PROTOPORPHYRIA, ERYTHROPOIETIC, 1 		0.800 1.000 13 1991 2007
dbSNP: rs150146721
rs150146721 		0.925 0.160 18 57554336 missense variant G/A snv 4.8E-05 6.3E-05
CUI: C4692546
Disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1
PROTOPORPHYRIA, ERYTHROPOIETIC, 1 		0.800 1.000 13 1991 2007
dbSNP: rs118204037
rs118204037 		1.000 18 57559148 missense variant C/A;T snv 1.0E-03
CUI: C4692546
Disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1
PROTOPORPHYRIA, ERYTHROPOIETIC, 1 		0.700 1.000 13 1991 2007
dbSNP: rs1356965294
rs1356965294 		1.000 18 57571439 missense variant T/A snv 4.0E-06 2.1E-05
CUI: C4692546
Disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1
PROTOPORPHYRIA, ERYTHROPOIETIC, 1 		0.700 1.000 13 1991 2007
dbSNP: rs150830931
rs150830931 		0.925 0.160 18 57580082 missense variant G/A;C snv 2.8E-05; 9.3E-04
CUI: C4692546
Disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1
PROTOPORPHYRIA, ERYTHROPOIETIC, 1 		0.700 1.000 13 1991 2007
dbSNP: rs761962617
rs761962617 		1.000 18 57559242 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C4692546
Disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1
PROTOPORPHYRIA, ERYTHROPOIETIC, 1 		0.700 1.000 13 1991 2007
dbSNP: rs146269992
rs146269992 		1.000 18 57554937 missense variant C/T snv 8.4E-05 7.0E-05
CUI: C4692546
Disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1
PROTOPORPHYRIA, ERYTHROPOIETIC, 1 		0.700 1.000 3 2006 2013
dbSNP: rs2272783
rs2272783 		1.000 18 57571588 synonymous variant A/G snv 0.12 6.3E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 2 2018 2019
dbSNP: rs2272783
rs2272783 		1.000 18 57571588 synonymous variant A/G snv 0.12 6.3E-02
CUI: C4692546
Disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1
PROTOPORPHYRIA, ERYTHROPOIETIC, 1 		0.700 1.000 2 2013 2017
dbSNP: rs370708663
rs370708663 		1.000 18 57554903 missense variant T/C snv 8.0E-06
CUI: C4692546
Disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1
PROTOPORPHYRIA, ERYTHROPOIETIC, 1 		0.700 1.000 2 2009 2009
dbSNP: rs2272783
rs2272783 		1.000 18 57571588 synonymous variant A/G snv 0.12 6.3E-02
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs2272783
rs2272783 		1.000 18 57571588 synonymous variant A/G snv 0.12 6.3E-02
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs2272783
rs2272783 		1.000 18 57571588 synonymous variant A/G snv 0.12 6.3E-02
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2018 2018
dbSNP: rs765518889
rs765518889 		1.000 18 57554424 missense variant C/A snv 1.2E-05 2.1E-05
CUI: C4692546
Disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1
PROTOPORPHYRIA, ERYTHROPOIETIC, 1 		0.700 1.000 1 2013 2013
dbSNP: rs1055019947
rs1055019947 		1.000 18 57566474 missense variant A/G snv 8.0E-06
CUI: C4692546
Disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1
PROTOPORPHYRIA, ERYTHROPOIETIC, 1 		0.700 0
dbSNP: rs1160565035
rs1160565035 		1.000 18 57566513 missense variant C/T snv 4.0E-06
CUI: C4692546
Disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1
PROTOPORPHYRIA, ERYTHROPOIETIC, 1 		0.700 0
dbSNP: rs1324421474
rs1324421474 		1.000 18 57550767 missense variant C/T snv 7.0E-06
CUI: C4692546
Disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1
PROTOPORPHYRIA, ERYTHROPOIETIC, 1 		0.700 0
dbSNP: rs149067146
rs149067146 		1.000 18 57573244 splice donor variant A/C snv 2.0E-05 2.8E-05
CUI: C4692546
Disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1
PROTOPORPHYRIA, ERYTHROPOIETIC, 1 		0.700 0
dbSNP: rs202147607
rs202147607 		1.000 18 57551312 splice region variant T/C snv 4.0E-06
CUI: C4692546
Disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1
PROTOPORPHYRIA, ERYTHROPOIETIC, 1 		0.700 0
dbSNP: rs2269219
rs2269219 		1.000 18 57580222 intron variant G/A;C;T snv 0.25; 4.0E-06; 4.0E-06
CUI: C4692546
Disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1
PROTOPORPHYRIA, ERYTHROPOIETIC, 1 		0.700 0
dbSNP: rs3848519
rs3848519 		1.000 18 57580104 missense variant C/A;T snv 2.2E-02; 7.0E-04
CUI: C4692546
Disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1
PROTOPORPHYRIA, ERYTHROPOIETIC, 1 		0.700 0
dbSNP: rs397514476
rs397514476 		1.000 18 57566492 missense variant C/T snv
CUI: C4692546
Disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1
PROTOPORPHYRIA, ERYTHROPOIETIC, 1 		0.700 0
dbSNP: rs764466739
rs764466739 		1.000 18 57551316 frameshift variant T/- delins 4.0E-06
CUI: C4692546
Disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1
PROTOPORPHYRIA, ERYTHROPOIETIC, 1 		0.700 0
dbSNP: rs786205245
rs786205245 		1.000 18 57554259 splice donor variant C/A;T snv
CUI: C4692546
Disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1
PROTOPORPHYRIA, ERYTHROPOIETIC, 1 		0.700 0