rs41407250

Orientation

plus

Stabilized

plus

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

Make rs41407250(A;G)

Make rs41407250(G;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

176765

Gene

HBA1

is a	snp
is	mentioned by
dbSNP	rs41407250
dbSNP (classic)	rs41407250
ClinGen	rs41407250
ebi	rs41407250
HLI	rs41407250
Exac	rs41407250
Gnomad	rs41407250
Varsome	rs41407250
LitVar	rs41407250
Map	rs41407250
PheGenI	rs41407250
Biobank	rs41407250
1000 genomes	rs41407250
hgdp	rs41407250
ensembl	rs41407250
geneview	rs41407250
scholar	rs41407250
google	rs41407250
pharmgkb	rs41407250
gwascentral	rs41407250
openSNP	rs41407250
23andMe	rs41407250
SNPshot	rs41407250
SNPdbe	rs41407250
MSV3d	rs41407250
GWAS Ctlg	rs41407250

Max Magnitude

0

OMIM	141800
Desc
Variant	0055
Related	also

OMIM	141850
Desc
Variant	0011
Related	also

ClinVar
Risk	rs41407250(G;G)
Alt	rs41407250(G;G)
Reference	Rs41407250(A;A)
Significance	Other
Disease	HEMOGLOBIN I HEMOGLOBIN I (BURLINGTON) HEMOGLOBIN I (PHILADELPHIA) HEMOGLOBIN I (SKAMANIA) HEMOGLOBIN I (TEXAS)
Variation	info
Gene	HBA1
CLNDBN	HEMOGLOBIN I HEMOGLOBIN I (BURLINGTON) HEMOGLOBIN I (PHILADELPHIA) HEMOGLOBIN I (SKAMANIA) HEMOGLOBIN I (TEXAS)
Reversed	0
HGVS	NC_000016.9:g.226764A>G
CLNSRC	HBVAR OMIM Allelic Variant
CLNACC	RCV000017051.3, RCV000017052.3, RCV000017053.3, RCV000017054.3, RCV000017055.3,

[PMID 740406] Hb I alpha16 Lys leads to Glu and Hb Broussais alpha90 Lys leads to Asn in Australian families.

[PMID 5480848] Diminished synthesis of an alpha chain mutant, hemoglobin I (alpha-16 lys leads to glu).

[PMID 5886214] Abnormal haemoglobins and the genetic code.

[PMID 6129205] Hemoglobin I (alpha 16(A14) Lys replaced by Glu) and hemoglobin J Iran (beta 77(EF1) His replaced by Asp) discovered in Japanese.

[PMID 6505702] Hemoglobin I mutation encoded at both alpha-globin loci on the same chromosome: concerted evolution in the human genome.

[PMID 7803274] The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes.