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rs36104787

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs36104787(C;G)
Make rs36104787(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position177050
GeneHBA1
is asnp
is mentioned by
dbSNPrs36104787
ebirs36104787
HLIrs36104787
Exacrs36104787
Varsomers36104787
Maprs36104787
PheGenIrs36104787
hapmaprs36104787
1000 genomesrs36104787
hgdprs36104787
ensemblrs36104787
gopubmedrs36104787
geneviewrs36104787
scholarrs36104787
googlers36104787
pharmgkbrs36104787
gwascentralrs36104787
openSNPrs36104787
23andMers36104787
23andMe allrs36104787
SNP Nexus

SNPshotrs36104787
SNPdbers36104787
MSV3drs36104787
GWAS Ctlgrs36104787
Max Magnitude0
OMIM141800
Desc
Variant0196
Relatedalso
OMIM141850
Desc
Variant0049
Relatedalso
ClinVar
Risk rs36104787(G,T;G,T)
Alt rs36104787(G,T;G,T)
Reference rs36104787(C;C)
Significance Other
Disease HEMOGLOBIN FUCHU-I
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN FUCHU-I
Reversed 0
HGVS NC_000016.9:g.227049C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017215.2,


[PMID 8718697] Two new alpha chain variants: Hb Fuchu-I [alpha 72(EF1)His-->Tyr] and Hb Fuchu-II [alpha 97(G4)Asn-->His].