rs41518249

Orientation

plus

Stabilized

plus

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

Make rs41518249(A;A)

Make rs41518249(A;C)

Reference

GRCh38 38.1/141

Chromosome

16

Position

173179

Gene

HBA2

is a	snp
is	mentioned by
dbSNP	rs41518249
dbSNP (classic)	rs41518249
ClinGen	rs41518249
ebi	rs41518249
HLI	rs41518249
Exac	rs41518249
Gnomad	rs41518249
Varsome	rs41518249
LitVar	rs41518249
Map	rs41518249
PheGenI	rs41518249
Biobank	rs41518249
1000 genomes	rs41518249
hgdp	rs41518249
ensembl	rs41518249
geneview	rs41518249
scholar	rs41518249
google	rs41518249
pharmgkb	rs41518249
gwascentral	rs41518249
openSNP	rs41518249
23andMe	rs41518249
SNPshot	rs41518249
SNPdbe	rs41518249
MSV3d	rs41518249
GWAS Ctlg	rs41518249

Max Magnitude

0

OMIM	141800
Desc
Variant	0127
Related	also

ClinVar
Risk	rs41518249(A;A)
Alt	rs41518249(A;A)
Reference	Rs41518249(C;C)
Significance	Other
Disease	HEMOGLOBIN SAVARIA
Variation	info
Gene	HBA2
CLNDBN	HEMOGLOBIN SAVARIA
Reversed	0
HGVS	NC_000016.9:g.223178C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017149.1,

[PMID 3937826] Hb Savaria or alpha(2)49(CE7)Ser----Arg beta 2 in a Yugoslavian family.

[PMID 7353957] A new hemoblogin variant in hungary: Hb Savaria - alpha 49 (CE7) Ser replace by Arg.