rs63751269

plus

Geno	Mag	Summary
(A;A)	0	common/normal
(A;C)	3	Alpha-thalassemia allele carrier

Make rs63751269(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

16

Position

173694

Gene

HBA2

is a	snp
is	mentioned by
dbSNP	rs63751269
dbSNP (classic)	rs63751269
ClinGen	rs63751269
ebi	rs63751269
HLI	rs63751269
Exac	rs63751269
Gnomad	rs63751269
Varsome	rs63751269
LitVar	rs63751269
Map	rs63751269
PheGenI	rs63751269
Biobank	rs63751269
1000 genomes	rs63751269
hgdp	rs63751269
ensembl	rs63751269
geneview	rs63751269
scholar	rs63751269
google	rs63751269
pharmgkb	rs63751269
gwascentral	rs63751269
openSNP	rs63751269
23andMe	rs63751269
SNPshot	rs63751269
SNPdbe	rs63751269
MSV3d	rs63751269
GWAS Ctlg	rs63751269

Max Magnitude

3

[PMID 27569544 ] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.

ClinVar
Risk	rs63751269(C;C) rs63751269(G;G)
Alt	rs63751269(C;C) rs63751269(G;G)
Reference	Rs63751269(A;A)
Significance	Pathogenic
Disease	Alpha Thalassemia
Variation	info
Gene	HBA2
CLNDBN	alpha Thalassemia
Reversed	0
HGVS	NC_000016.9:g.223693A>G
CLNSRC
CLNACC	RCV000417217.1,