rs34474104

Orientation

minus

Stabilized

minus

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

Make rs34474104(C;T)

Make rs34474104(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5254417

Gene

HBG2

is a	snp
is	mentioned by
dbSNP	rs34474104
dbSNP (classic)	rs34474104
ClinGen	rs34474104
ebi	rs34474104
HLI	rs34474104
Exac	rs34474104
Gnomad	rs34474104
Varsome	rs34474104
LitVar	rs34474104
Map	rs34474104
PheGenI	rs34474104
Biobank	rs34474104
1000 genomes	rs34474104
hgdp	rs34474104
ensembl	rs34474104
geneview	rs34474104
scholar	rs34474104
google	rs34474104
pharmgkb	rs34474104
gwascentral	rs34474104
openSNP	rs34474104
23andMe	rs34474104
SNPshot	rs34474104
SNPdbe	rs34474104
MSV3d	rs34474104
GWAS Ctlg	rs34474104

Merged from

Rs104894224

Max Magnitude

0

OMIM	142250
Desc
Variant	0025
Related	also

ClinVar
Risk	rs34474104(T;T)
Alt	rs34474104(T;T)
Reference	Rs34474104(C;C)
Significance	Pathogenic
Disease	Cyanosis
Variation	info
Gene	HBG2
CLNDBN	Cyanosis, transient neonatal
Reversed	1
HGVS	NC_000011.9:g.5275647G>A
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016121.25,

[PMID 2483933] Hb F-M-Osaka or alpha 2G gamma 2(63)(E7)His----Tyr in a Caucasian male infant.

[PMID 8811323] A new case of Hb F-M-Osaka [G gamma 63(E7)His-->Tyr] showed only benign neonatal cyanosis.

[PMID 12603090] Hb F-M-Osaka [Ggamma63(E7)His --> tyr] in a newborn from southwest France.