rs33947112

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in complete genomics

Make rs33947112(G;T)

Make rs33947112(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5249442

Gene

HBG1

is a	snp
is	mentioned by
dbSNP	rs33947112
dbSNP (classic)	rs33947112
ClinGen	rs33947112
ebi	rs33947112
HLI	rs33947112
Exac	rs33947112
Gnomad	rs33947112
Varsome	rs33947112
LitVar	rs33947112
Map	rs33947112
PheGenI	rs33947112
Biobank	rs33947112
1000 genomes	rs33947112
hgdp	rs33947112
ensembl	rs33947112
geneview	rs33947112
scholar	rs33947112
google	rs33947112
pharmgkb	rs33947112
gwascentral	rs33947112
openSNP	rs33947112
23andMe	rs33947112
SNPshot	rs33947112
SNPdbe	rs33947112
MSV3d	rs33947112
GWAS Ctlg	rs33947112

Max Magnitude

0

OMIM	142200
Desc
Variant	0021
Related	also

OMIM	142200
Desc
Variant	0024
Related	also

OMIM	142250
Desc
Variant	0015
Related	also

?	(A;G) (G;G)

ClinVar
Risk	rs33947112(A;A) rs33947112(T;T)
Alt	rs33947112(A;A) rs33947112(T;T)
Reference	Rs33947112(G;G)
Significance	Other
Disease	HEMOGLOBIN F (VICTORIA JUBILEE) HEMOGLOBIN F (YAMAGUCHI)
Variation	info
Gene	HBG1
CLNDBN	HEMOGLOBIN F (VICTORIA JUBILEE) HEMOGLOBIN F (YAMAGUCHI)
Reversed	1
HGVS	NC_000011.9:g.5270672C>A; NC_000011.9:g.5270672C>T
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000016166.1, RCV000016169.1,

[PMID 1138921] Haemoglobin F Victoria Jubilee (alpha 2 A gamma 2 80 Asp-Try).

[PMID 2420697] Fetal hemoglobin variants in 80,000 Japanese neonates: high prevalence of Hb F Yamaguchi (A gamma T 80 Asp----Asn).

[PMID 6163752] Survey of cord blood hemoglobin in Japan and identification of two new gamma chain variants.

[PMID 6198905] HB F-Yamaguchi (gamma 75Thr, gamma 80Asn, gamma 136Ala) is associated with G gamma-thalassemia.