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rs201312386

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs201312386(C;C)
Make rs201312386(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position45508838
GeneMMACHC
is asnp
is mentioned by
dbSNPrs201312386
dbSNP (classic)rs201312386
ClinGenrs201312386
ebirs201312386
HLIrs201312386
Exacrs201312386
Gnomadrs201312386
Varsomers201312386
LitVarrs201312386
Maprs201312386
PheGenIrs201312386
Biobankrs201312386
1000 genomesrs201312386
hgdprs201312386
ensemblrs201312386
geneviewrs201312386
scholarrs201312386
googlers201312386
pharmgkbrs201312386
gwascentralrs201312386
openSNPrs201312386
23andMers201312386
SNPshotrs201312386
SNPdbers201312386
MSV3drs201312386
GWAS Ctlgrs201312386
Max Magnitude0
ClinVar
Risk rs201312386(C;C)
Alt rs201312386(C;C)
Reference Rs201312386(T;T)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene MMACHC
CLNDBN not provided
Reversed 0
HGVS NC_000001.10:g.45974510T>C
CLNSRC
CLNACC RCV000186030.1,