rs34621955

Orientation

minus

Stabilized

minus

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

Make rs34621955(C;C)

Make rs34621955(C;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226712

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs34621955
dbSNP (classic)	rs34621955
ClinGen	rs34621955
ebi	rs34621955
HLI	rs34621955
Exac	rs34621955
Gnomad	rs34621955
Varsome	rs34621955
LitVar	rs34621955
Map	rs34621955
PheGenI	rs34621955
Biobank	rs34621955
1000 genomes	rs34621955
hgdp	rs34621955
ensembl	rs34621955
geneview	rs34621955
scholar	rs34621955
google	rs34621955
pharmgkb	rs34621955
gwascentral	rs34621955
openSNP	rs34621955
23andMe	rs34621955
SNPshot	rs34621955
SNPdbe	rs34621955
MSV3d	rs34621955
GWAS Ctlg	rs34621955

Max Magnitude

0

OMIM	141900
Desc
Variant	0134
Related	also

ClinVar
Risk	rs34621955(A;A) rs34621955(C;C) rs34621955(T;T)
Alt	rs34621955(A;A) rs34621955(C;C) rs34621955(T;T)
Reference	Rs34621955(G;G)
Significance	Other
Disease	HEMOGLOBIN J (LOME)
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN J (LOME)
Reversed	1
HGVS	NC_000011.9:g.5247942C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000016421.2,

[PMID 457426] Hb J Lome beta 59 (E3) Lys is replaced by Asn associated with HPFH in a Togolese family.

[PMID 2703367] Hb J-Lome or alpha 2 beta 259(E3)Lys----Asn in a Vietnamese family.

[PMID 3085422] Identification of abnormal hemoglobin (J Lome): beta 59 (E3) lysine----asparagine in a Japanese.

[PMID 6406011] [Chemicostructural analysis of a case of hemoglobin J Lome (beta 59 (E3) Lys leads to Asn)].

[PMID 6668190] Hemoglobin J Lome: beta 59 (E3) lysine replaced by asparagine observed in a Japanese family.

[PMID 9846016] A patient with a hemoglobin variant (Hb JLome) unexpectedly detected by HPLC for glycated hemoglobin (Hb A1c).