rs35020253

Orientation

minus

Stabilized

minus

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

Make rs35020253(C;C)

Make rs35020253(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

5253366

Gene

HBG2

is a	snp
is	mentioned by
dbSNP	rs35020253
dbSNP (classic)	rs35020253
ClinGen	rs35020253
ebi	rs35020253
HLI	rs35020253
Exac	rs35020253
Gnomad	rs35020253
Varsome	rs35020253
LitVar	rs35020253
Map	rs35020253
PheGenI	rs35020253
Biobank	rs35020253
1000 genomes	rs35020253
hgdp	rs35020253
ensembl	rs35020253
geneview	rs35020253
scholar	rs35020253
google	rs35020253
pharmgkb	rs35020253
gwascentral	rs35020253
openSNP	rs35020253
23andMe	rs35020253
SNPshot	rs35020253
SNPdbe	rs35020253
MSV3d	rs35020253
GWAS Ctlg	rs35020253

Merged from

Rs28933080

Max Magnitude

0

OMIM	142250
Desc
Variant	0047
Related	also

ClinVar
Risk	rs35020253(C;C)
Alt	rs35020253(C;C)
Reference	Rs35020253(T;T)
Significance	Other
Disease	HEMOGLOBIN F (CALABRIA)
Variation	info
Gene	HBG2
CLNDBN	HEMOGLOBIN F (CALABRIA)
Reversed	1
HGVS	NC_000011.9:g.5274596A>G
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016142.2,

[PMID 10722114] A new, electrophoretically silent, fetal hemoglobin variant: Hb F-Calabria [Ggamma118(GH1)Phe-->Leu].