rs33914359

minus

Geno	Mag	Summary
(A;A)	0	common in complete genomics
(AA;AA)	0	common in clinvar

Make rs33914359(A;G)

Make rs33914359(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226606

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs33914359
dbSNP (classic)	rs33914359
ClinGen	rs33914359
ebi	rs33914359
HLI	rs33914359
Exac	rs33914359
Gnomad	rs33914359
Varsome	rs33914359
LitVar	rs33914359
Map	rs33914359
PheGenI	rs33914359
Biobank	rs33914359
1000 genomes	rs33914359
hgdp	rs33914359
ensembl	rs33914359
geneview	rs33914359
scholar	rs33914359
google	rs33914359
pharmgkb	rs33914359
gwascentral	rs33914359
openSNP	rs33914359
23andMe	rs33914359
SNPshot	rs33914359
SNPdbe	rs33914359
MSV3d	rs33914359
GWAS Ctlg	rs33914359

Merged from

Rs121909814

Max Magnitude

0

OMIM	141900
Desc
Variant	0010
Related	also

OMIM	141900
Desc
Variant	0188
Related	also

ClinVar
Risk	rs33914359(G;G)
Alt	rs33914359(G;G)
Reference	Rs33914359(A;A)
Significance	Other
Disease	HEMOGLOBIN ARLINGTON PARK HEMOGLOBIN N (BALTIMORE) HEMOGLOBIN N (JENKINS) HEMOGLOBIN JENKINS HEMOGLOBIN HOPKINS 1 HEMOGLOBIN KENWOOD
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN ARLINGTON PARK HEMOGLOBIN N (BALTIMORE) HEMOGLOBIN N (JENKINS) HEMOGLOBIN JENKINS HEMOGLOBIN HOPKINS 1 HEMOGLOBIN KENWOOD
Reversed	1
HGVS	NC_000011.9:g.5247836T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000016251.2, RCV000016504.2, RCV000016505.2, RCV000016506.2, RCV000016507.2, RCV000016508.2,

[PMID 826073] A case with both hemoglobins C and N-Baltimore.

[PMID 5886928] An improved method for the characterization of human haemoglobin mutants: identification of alpha-2-beta-2-95GLU, haemoglobin N (Baltimore).

[PMID 5961314] Hemoglobin Jenkins or hemoglobin-N-Baltimore or alpha-2-beta-2 95Glu.

[PMID 6034218] Primary structure of Hopkins-1 haemoglobin.