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rs757649673

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TAACCTC;TAACCTC) 0 common in clinvar
Make rs757649673(-;-)
Make rs757649673(-;TAACCTC)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position16918688
GeneCUBN
is asnp
is mentioned by
dbSNPrs757649673
dbSNP (classic)rs757649673
ClinGenrs757649673
ebirs757649673
HLIrs757649673
Exacrs757649673
Gnomadrs757649673
Varsomers757649673
LitVarrs757649673
Maprs757649673
PheGenIrs757649673
Biobankrs757649673
1000 genomesrs757649673
hgdprs757649673
ensemblrs757649673
geneviewrs757649673
scholarrs757649673
googlers757649673
pharmgkbrs757649673
gwascentralrs757649673
openSNPrs757649673
23andMers757649673
SNPshotrs757649673
SNPdbers757649673
MSV3drs757649673
GWAS Ctlgrs757649673
Max Magnitude0
ClinVar
Risk rs757649673(-;-)
Alt rs757649673(-;-)
Reference Rs757649673(TAACCTC;TAACCTC)
Significance Pathogenic
Disease Megaloblastic anemia due to inborn errors of metabolism
Variation info
Gene CUBN
CLNDBN Megaloblastic anemia due to inborn errors of metabolism
Reversed 0
HGVS NC_000010.10:g.16960687_16960693delTAACCTC
CLNSRC
CLNACC RCV000169656.1,