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rs756980496

From SNPedia

Orientationplus
Stabilizedplus
Make rs756980496(C;C)
Make rs756980496(C;T)
Make rs756980496(T;T)
ReferenceGRCh38.p7 38.3/151
Chromosome1
Position45507432
GeneMMACHC
is asnp
is mentioned by
dbSNPrs756980496
dbSNP (classic)rs756980496
ClinGenrs756980496
ebirs756980496
HLIrs756980496
Exacrs756980496
Gnomadrs756980496
Varsomers756980496
LitVarrs756980496
Maprs756980496
PheGenIrs756980496
Biobankrs756980496
1000 genomesrs756980496
hgdprs756980496
ensemblrs756980496
geneviewrs756980496
scholarrs756980496
googlers756980496
pharmgkbrs756980496
gwascentralrs756980496
openSNPrs756980496
23andMers756980496
23andMe allrs756980496
SNPshotrs756980496
SNPdbers756980496
MSV3drs756980496
GWAS Ctlgrs756980496
Max Magnitude0

aka NM_015506.2(MMACHC):c.158T>C or (p.Leu53Pro)

OMIM pathogenic variant