HBG1, hemoglobin subunit gamma 1, 3047

N. diseases: 65; N. variants: 8
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: rs6578592
rs6578592 		11 5247910 upstream gene variant C/A;G snv
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 1 2008 2008
dbSNP: rs281860601
rs281860601 		11 5249971 intron variant G/A;C;T snv
CUI: C1841621
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 		0.700 0
dbSNP: rs35321913
rs35321913 		11 5250052 intron variant G/C snv
CUI: C1841621
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 		0.700 0
dbSNP: rs35378915
rs35378915 		1.000 11 5249974 intron variant C/T snv
CUI: C4017537
Disease: GREEK HPFH PHENOTYPE
GREEK HPFH PHENOTYPE 		0.700 0
dbSNP: rs35378915
rs35378915 		1.000 11 5249974 intron variant C/T snv
CUI: C3891817
Disease: SARDINIAN HPFH PHENOTYPE
SARDINIAN HPFH PHENOTYPE 		0.700 0
dbSNP: rs35378915
rs35378915 		1.000 11 5249974 intron variant C/T snv
CUI: C1841621
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 		0.700 0
dbSNP: rs35710727
rs35710727 		1.000 11 5250055 intron variant A/G snv
CUI: C4017538
Disease: BRITISH HPFH PHENOTYPE
BRITISH HPFH PHENOTYPE 		0.700 0
dbSNP: rs35710727
rs35710727 		1.000 11 5250055 intron variant A/G snv
CUI: C1841621
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 		0.700 0
dbSNP: rs35983258
rs35983258 		11 5250053 intron variant G/A snv 2.1E-05
CUI: C1841621
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 		0.700 0
dbSNP: rs1061234
rs1061234 		1.000 0.080 11 5249456 missense variant G/A snv 0.36
CUI: C0271980
Disease: beta^0^ Thalassemia
beta^0^ Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1986 1986
dbSNP: rs368698783
rs368698783 		11 5249833 5 prime UTR variant C/T snv 0.15
CUI: C0039730
Disease: Thalassemia
Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017