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rs869025285

From SNPedia

Orientationplus
Geno Mag Summary
(GAATCAG;GAATCAG) 0 common in clinvar
Make rs869025285(-;-)
Make rs869025285(-;GAATCAG)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position29018389
GeneEPB41
is asnp
is mentioned by
dbSNPrs869025285
ebirs869025285
HLIrs869025285
Exacrs869025285
Varsomers869025285
Maprs869025285
PheGenIrs869025285
hapmaprs869025285
1000 genomesrs869025285
hgdprs869025285
ensemblrs869025285
gopubmedrs869025285
geneviewrs869025285
scholarrs869025285
googlers869025285
pharmgkbrs869025285
gwascentralrs869025285
openSNPrs869025285
23andMers869025285
23andMe allrs869025285
SNP Nexus

SNPshotrs869025285
SNPdbers869025285
MSV3drs869025285
GWAS Ctlgrs869025285
Max Magnitude0
ClinVar
Risk rs869025285(;)
Alt rs869025285(;)
Reference rs869025285(GAATCAG;GAATCAG)
Significance Pathogenic
Disease Hereditary elliptocytosis
Variation info
Gene EPB41
CLNDBN Hereditary elliptocytosis
Reversed 0
HGVS NC_000001.10:g.29344901_29344907delGAATCAG
CLNSRC
CLNACC RCV000207065.1,