rs41461652

plus

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

Make rs41461652(C;G)

Make rs41461652(G;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

173180

Gene

HBA2

is a	snp
is	mentioned by
dbSNP	rs41461652
dbSNP (classic)	rs41461652
ClinGen	rs41461652
ebi	rs41461652
HLI	rs41461652
Exac	rs41461652
Gnomad	rs41461652
Varsome	rs41461652
LitVar	rs41461652
Map	rs41461652
PheGenI	rs41461652
Biobank	rs41461652
1000 genomes	rs41461652
hgdp	rs41461652
ensembl	rs41461652
geneview	rs41461652
scholar	rs41461652
google	rs41461652
pharmgkb	rs41461652
gwascentral	rs41461652
openSNP	rs41461652
23andMe	rs41461652
SNPshot	rs41461652
SNPdbe	rs41461652
MSV3d	rs41461652
GWAS Ctlg	rs41461652

Max Magnitude

0

OMIM	141850
Desc
Variant	0036
Related	also

ClinVar
Risk	rs41461652(G;G) rs41461652(T;T)
Alt	rs41461652(G;G) rs41461652(T;T)
Reference	Rs41461652(C;C)
Significance	Other
Disease	HEMOGLOBIN J (SARDEGNA)
Variation	info
Gene	HBA2
CLNDBN	HEMOGLOBIN J (SARDEGNA)
Reversed	0
HGVS	NC_000016.9:g.223179C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000016947.1,

[PMID 4625462] A case of haemoglobin J Sardegna- -thalassaemia double heterozygosis.

[PMID 5649699] Haemoglobin J Sardegna: alpha 50(CD 8) histidine -aspartic acid.

[PMID 5801827] A new haemoglobin: Hb J Sardegna (alpha50 histidine--aspartic acid).

[PMID 6155159] Coexistence of three hemoglobins with different alpha-chains in two unrelated children (with family studies indicating polymorphism in the number of alpha-globin genes in the Sardinian population).

[PMID 9895333] Posttranslational deamidation of proteins: the case of hemoglobin J Sardegna [alpha50(CD8)His-->Asn-->Asp].

[PMID 10657257 ] Adult and fetal haemoglobin J-Sardegna [alpha50(CE8)His-->Asp]: functional and molecular modelling studies.