rs63749948

Orientation

plus

Stabilized

plus

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

Make rs63749948(A;A)

Reference

GRCh38 38.1/141

Chromosome

16

Position

177314

Gene

HBA1

is a	snp
is	mentioned by
dbSNP	rs63749948
dbSNP (classic)	rs63749948
ClinGen	rs63749948
ebi	rs63749948
HLI	rs63749948
Exac	rs63749948
Gnomad	rs63749948
Varsome	rs63749948
LitVar	rs63749948
Map	rs63749948
PheGenI	rs63749948
Biobank	rs63749948
1000 genomes	rs63749948
hgdp	rs63749948
ensembl	rs63749948
geneview	rs63749948
scholar	rs63749948
google	rs63749948
pharmgkb	rs63749948
gwascentral	rs63749948
openSNP	rs63749948
23andMe	rs63749948
SNPshot	rs63749948
SNPdbe	rs63749948
MSV3d	rs63749948
GWAS Ctlg	rs63749948

Max Magnitude

0

OMIM	141800
Desc
Variant	0117
Related	also

ClinVar
Risk	rs63749948(A;A) rs63749948(T;T)
Alt	rs63749948(A;A) rs63749948(T;T)
Reference	Rs63749948(C;C)
Significance	Other
Disease	HEMOGLOBIN PETAH TIKVA
Variation	info
Gene	HBA1
CLNDBN	HEMOGLOBIN PETAH TIKVA
Reversed	0
HGVS	NC_000016.9:g.227313C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017140.2,

[PMID 7470621] Hemoglobin Petah Tikva (alpha 110 ala replaced by asp): a new unstable variant with alpha-thalassemia-like expression.