rs34440919

Orientation

plus

Stabilized

plus

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

Make rs34440919(C;G)

Make rs34440919(G;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

177070

Gene

HBA1

is a	snp
is	mentioned by
dbSNP	rs34440919
dbSNP (classic)	rs34440919
ClinGen	rs34440919
ebi	rs34440919
HLI	rs34440919
Exac	rs34440919
Gnomad	rs34440919
Varsome	rs34440919
LitVar	rs34440919
Map	rs34440919
PheGenI	rs34440919
Biobank	rs34440919
1000 genomes	rs34440919
hgdp	rs34440919
ensembl	rs34440919
geneview	rs34440919
scholar	rs34440919
google	rs34440919
pharmgkb	rs34440919
gwascentral	rs34440919
openSNP	rs34440919
23andMe	rs34440919
SNPshot	rs34440919
SNPdbe	rs34440919
MSV3d	rs34440919
GWAS Ctlg	rs34440919

Max Magnitude

0

OMIM	141800
Desc
Variant	0139
Related	also

ClinVar
Risk	rs34440919(G;G)
Alt	rs34440919(G;G)
Reference	Rs34440919(C;C)
Significance	Other
Disease	HEMOGLOBIN STANLEYVILLE-II
Variation	info
Gene	HBA1
CLNDBN	HEMOGLOBIN STANLEYVILLE-II
Reversed	0
HGVS	NC_000016.9:g.227069C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017160.2,

[PMID 807076] Haemoglobin Stanleyville II (alpha75 [EF 7] Asn yeilds Lys) found in France.

[PMID 5696551] Haemoglobin Stanleyville II (alpha asparagine replaced by lysine).

[PMID 6681956] Sickle cell hemoglobin fiber formation strongly inhibited by the Stanleyville II mutation (alpha 78 Asn leads to Lys).