rs35849199

Orientation

minus

Stabilized

minus

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

Make rs35849199(C;C)

Make rs35849199(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5225705

Gene

HBB

is a	snp
is	mentioned by
dbSNP	rs35849199
dbSNP (classic)	rs35849199
ClinGen	rs35849199
ebi	rs35849199
HLI	rs35849199
Exac	rs35849199
Gnomad	rs35849199
Varsome	rs35849199
LitVar	rs35849199
Map	rs35849199
PheGenI	rs35849199
Biobank	rs35849199
1000 genomes	rs35849199
hgdp	rs35849199
ensembl	rs35849199
geneview	rs35849199
scholar	rs35849199
google	rs35849199
pharmgkb	rs35849199
gwascentral	rs35849199
openSNP	rs35849199
23andMe	rs35849199
SNPshot	rs35849199
SNPdbe	rs35849199
MSV3d	rs35849199
GWAS Ctlg	rs35849199

Max Magnitude

0

OMIM	141900
Desc
Variant	0117
Related	also

ClinVar
Risk	rs35849199(C;C)
Alt	rs35849199(C;C)
Reference	Rs35849199(T;T)
Significance	Other
Disease	HEMOGLOBIN INDIANAPOLIS Heinz body anemia
Variation	info
Gene	HBB
CLNDBN	HEMOGLOBIN INDIANAPOLIS Heinz body anemia
Reversed	1
HGVS	NC_000011.9:g.5246935A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016392.3, RCV000016393.27,

[PMID 429365] The structure of hemoglobin Indianapolis [beta112(G14) arginine]. An unstable variant detectable only by isotopic labeling.

[PMID 447835] Hemoglobin Indianapolis (beta 112[G14] arginine). An unstable beta-chain variant producing the phenotype of severe beta-thalassemia.

[PMID 3781865] A case of hemoglobin Indianapolis [beta 112(G14) Cys----Arg] in an individual from Cordoba, Spain.