Have questions? Visit https://www.reddit.com/r/SNPedia

rs35103459

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs35103459(C;T)
Make rs35103459(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5254330
GeneHBG2, ZNF285B
is asnp
is mentioned by
dbSNPrs35103459
ebirs35103459
HLIrs35103459
Exacrs35103459
Varsomers35103459
Maprs35103459
PheGenIrs35103459
hapmaprs35103459
1000 genomesrs35103459
hgdprs35103459
ensemblrs35103459
gopubmedrs35103459
geneviewrs35103459
scholarrs35103459
googlers35103459
pharmgkbrs35103459
gwascentralrs35103459
openSNPrs35103459
23andMers35103459
23andMe allrs35103459
SNP Nexus

SNPshotrs35103459
SNPdbers35103459
MSV3drs35103459
GWAS Ctlgrs35103459
Max Magnitude0
OMIM142250
Desc
Variant0034
Relatedalso
ClinVar
Risk rs35103459(T;T)
Alt rs35103459(T;T)
Reference rs35103459(C;C)
Significance Pathogenic
Disease Cyanosis
Variation info
Gene HBG2
CLNDBN Cyanosis, transient neonatal
Reversed 1
HGVS NC_000011.9:g.5275560G>A
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016129.22,



[PMID 1385361] A second observation of the fetal methemoglobin variant Hb F-M-Fort Ripley or alpha 2G gamma 2(92)(F8)His----Tyr.


[PMID 2470017] Mutant fetal hemoglobin causing cyanosis in a newborn.


[PMID 2470018] Hemoglobin FM-Fort Ripley: another lesson from the neonate.