rs63749958

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(AAGGTG;AAGGTG)	0	common in complete genomics
(AGGTGA;AGGTGA)	0	common in clinvar

Make rs63749958(-;-)

Make rs63749958(-;AAGGTG)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226965

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs63749958
dbSNP (classic)	rs63749958
ClinGen	rs63749958
ebi	rs63749958
HLI	rs63749958
Exac	rs63749958
Gnomad	rs63749958
Varsome	rs63749958
LitVar	rs63749958
Map	rs63749958
PheGenI	rs63749958
Biobank	rs63749958
1000 genomes	rs63749958
hgdp	rs63749958
ensembl	rs63749958
geneview	rs63749958
scholar	rs63749958
google	rs63749958
pharmgkb	rs63749958
gwascentral	rs63749958
openSNP	rs63749958
23andMe	rs63749958
SNPshot	rs63749958
SNPdbe	rs63749958
MSV3d	rs63749958
GWAS Ctlg	rs63749958

Max Magnitude

0

OMIM	141900
Desc
Variant	0162
Related	also

ClinVar
Risk	rs63749958(-;-)
Alt	rs63749958(-;-)
Reference	rs63749958(GGTGAA;GGTGAA)
Significance	Other
Disease	HEMOGLOBIN LYON
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN LYON
Reversed	1
HGVS	NC_000011.9:g.5248195_5248200delCACCTT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000016461.2,

[PMID 4407311] Haemoglobin Lyon (beta17-18 (A 14-15) Lys-Val leads to O). Determination by sequenator analysis.