rs63749918

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(GGT;GGT)	0
(GTG;GTG)	0	common in clinvar

Make rs63749918(-;-)

Make rs63749918(-;GGT)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5226944

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs63749918
dbSNP (classic)	rs63749918
ClinGen	rs63749918
ebi	rs63749918
HLI	rs63749918
Exac	rs63749918
Gnomad	rs63749918
Varsome	rs63749918
LitVar	rs63749918
Map	rs63749918
PheGenI	rs63749918
Biobank	rs63749918
1000 genomes	rs63749918
hgdp	rs63749918
ensembl	rs63749918
geneview	rs63749918
scholar	rs63749918
google	rs63749918
pharmgkb	rs63749918
gwascentral	rs63749918
openSNP	rs63749918
23andMe	rs63749918
SNPshot	rs63749918
SNPdbe	rs63749918
MSV3d	rs63749918
GWAS Ctlg	rs63749918

Max Magnitude

0

OMIM	141900
Desc
Variant	0449
Related	also

ClinVar
Risk	rs63749918(-;-)
Alt	rs63749918(-;-)
Reference	Rs63749918(GTG;GTG)
Significance	Other
Disease	HEMOGLOBIN HIGASHITOCHIGI HEMOGLOBIN HT
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN HIGASHITOCHIGI HEMOGLOBIN HT
Reversed	1
HGVS	NC_000011.9:g.5248174_5248176delACC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000016803.2, RCV000016804.2,

[PMID 8294206] Hb Higashitochigi (Hb Ht) [ beta 24(B6) or beta 25(B7) glycine deleted]: a new unstable variant expressing cyanosis.