rs34502246

Orientation

plus

Stabilized

plus

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

Make rs34502246(A;A)

Make rs34502246(A;C)

Reference

GRCh38 38.1/141

Chromosome

16

Position

177024

Gene

HBA1

is a	snp
is	mentioned by
dbSNP	rs34502246
dbSNP (classic)	rs34502246
ClinGen	rs34502246
ebi	rs34502246
HLI	rs34502246
Exac	rs34502246
Gnomad	rs34502246
Varsome	rs34502246
LitVar	rs34502246
Map	rs34502246
PheGenI	rs34502246
Biobank	rs34502246
1000 genomes	rs34502246
hgdp	rs34502246
ensembl	rs34502246
geneview	rs34502246
scholar	rs34502246
google	rs34502246
pharmgkb	rs34502246
gwascentral	rs34502246
openSNP	rs34502246
23andMe	rs34502246
SNPshot	rs34502246
SNPdbe	rs34502246
MSV3d	rs34502246
GWAS Ctlg	rs34502246

Max Magnitude

0

OMIM	141800
Desc
Variant	0118
Related	also

ClinVar
Risk	rs34502246(A;A)
Alt	rs34502246(A;A)
Reference	Rs34502246(C;C)
Significance	Other
Disease	HEMOGLOBIN PONTOISE HEMOGLOBIN J (PONTOISE)
Variation	info
Gene	HBA1
CLNDBN	HEMOGLOBIN PONTOISE HEMOGLOBIN J (PONTOISE)
Reversed	0
HGVS	NC_000016.9:g.227023C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017141.3, RCV000017142.3,

[PMID 849454] Hemoglobin Pontoise alpha63 Ala replaced by Asp(E12). A new fast moving variant.

[PMID 3583765] Hb J-Pontoise or alpha 2(63)(E12)Ala----Asp beta 2 in four members of a Spanish family.