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rs137853062

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853062(C;T)
Make rs137853062(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position7891405
GeneMTRR
is asnp
is mentioned by
dbSNPrs137853062
ebirs137853062
HLIrs137853062
Exacrs137853062
Varsomers137853062
Maprs137853062
PheGenIrs137853062
hapmaprs137853062
1000 genomesrs137853062
hgdprs137853062
ensemblrs137853062
gopubmedrs137853062
geneviewrs137853062
scholarrs137853062
googlers137853062
pharmgkbrs137853062
gwascentralrs137853062
openSNPrs137853062
23andMers137853062
23andMe allrs137853062
SNP Nexus

SNPshotrs137853062
SNPdbers137853062
MSV3drs137853062
GWAS Ctlgrs137853062
Max Magnitude0
OMIM602568
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137853062(T;T)
Alt rs137853062(T;T)
Reference rs137853062(C;C)
Significance Pathogenic
Disease Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism
Variation info
Gene MTRR
CLNDBN Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type
Reversed 0
HGVS NC_000005.9:g.7891518C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007449.3,