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rs63751269

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common/normal
(A;C) 3 Alpha-thalassemia allele carrier
Make rs63751269(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position173694
GeneHBA2
is asnp
is mentioned by
dbSNPrs63751269
dbSNP (classic)rs63751269
ClinGenrs63751269
ebirs63751269
HLIrs63751269
Exacrs63751269
Gnomadrs63751269
Varsomers63751269
LitVarrs63751269
Maprs63751269
PheGenIrs63751269
Biobankrs63751269
1000 genomesrs63751269
hgdprs63751269
ensemblrs63751269
geneviewrs63751269
scholarrs63751269
googlers63751269
pharmgkbrs63751269
gwascentralrs63751269
openSNPrs63751269
23andMers63751269
23andMe allrs63751269
SNPshotrs63751269
SNPdbers63751269
MSV3drs63751269
GWAS Ctlgrs63751269
Max Magnitude3

[PMID 27569544OA-icon.png] 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,