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rs63750294

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs63750294(C;C)
Make rs63750294(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position172967
GeneHBA2
is asnp
is mentioned by
dbSNPrs63750294
ebirs63750294
HLIrs63750294
Exacrs63750294
Varsomers63750294
Maprs63750294
PheGenIrs63750294
hapmaprs63750294
1000 genomesrs63750294
hgdprs63750294
ensemblrs63750294
gopubmedrs63750294
geneviewrs63750294
scholarrs63750294
googlers63750294
pharmgkbrs63750294
gwascentralrs63750294
openSNPrs63750294
23andMers63750294
23andMe allrs63750294
SNP Nexus

SNPshotrs63750294
SNPdbers63750294
MSV3drs63750294
GWAS Ctlgrs63750294
Max Magnitude0
OMIM141800
Desc
Variant0049
Relatedalso
ClinVar
Risk rs63750294(C;C)
Alt rs63750294(C;C)
Reference rs63750294(G;G)
Significance Untested
Disease
Variation info
Gene HBA2
CLNDBN
Reversed 0
HGVS NC_000016.9:g.222966G>C
CLNSRC
CLNACC


[PMID 852596] Haemoglobin Handsworth alpha 18 (A16) glycine leads to arginne.


[PMID 4030381] Hemoglobin Handsworth or alpha2 18(A16)Gly----Arg beta2 in a Saudi newborn.


[PMID 7216818] Hemoglobin Handsworth (gamma 18 (A16) Gly leads to Arg) in a Chinese.