rs41392146

Orientation

plus

Stabilized

plus

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

Make rs41392146(G;G)

Make rs41392146(G;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

173175

Gene

HBA2

is a	snp
is	mentioned by
dbSNP	rs41392146
dbSNP (classic)	rs41392146
ClinGen	rs41392146
ebi	rs41392146
HLI	rs41392146
Exac	rs41392146
Gnomad	rs41392146
Varsome	rs41392146
LitVar	rs41392146
Map	rs41392146
PheGenI	rs41392146
Biobank	rs41392146
1000 genomes	rs41392146
hgdp	rs41392146
ensembl	rs41392146
geneview	rs41392146
scholar	rs41392146
google	rs41392146
pharmgkb	rs41392146
gwascentral	rs41392146
openSNP	rs41392146
23andMe	rs41392146
SNPshot	rs41392146
SNPdbe	rs41392146
MSV3d	rs41392146
GWAS Ctlg	rs41392146

Max Magnitude

0

OMIM	141850
Desc
Variant	0013
Related	also

ClinVar
Risk	rs41392146(C;C) rs41392146(G;G)
Alt	rs41392146(C;C) rs41392146(G;G)
Reference	Rs41392146(T;T)
Significance	Other
Disease	HEMOGLOBIN MONTGOMERY HEMOGLOBIN BIRMINGHAM (USA)
Variation	info
Gene	HBA2
CLNDBN	HEMOGLOBIN MONTGOMERY HEMOGLOBIN BIRMINGHAM (USA)
Reversed	0
HGVS	NC_000016.9:g.223174T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000016914.2, RCV000016915.2,

[PMID 1115799] Two new hemoglobins. Hemoglobin Alabama (beta39(C5)Gln leads to Lys) and hemoglobin Montgomery (alpha 48(CD 6) Leu leads to Arg).

[PMID 7096113] Hemoglobin Montgomery (alpha 2 48 Leu replaced by Arg beta 2) in a Chinese family.

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