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rs727504010

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727504010(C;T)
Make rs727504010(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position71635241
GeneMCCC2
is asnp
is mentioned by
dbSNPrs727504010
ebirs727504010
HLIrs727504010
Exacrs727504010
Varsomers727504010
Maprs727504010
PheGenIrs727504010
hapmaprs727504010
1000 genomesrs727504010
hgdprs727504010
ensemblrs727504010
gopubmedrs727504010
geneviewrs727504010
scholarrs727504010
googlers727504010
pharmgkbrs727504010
gwascentralrs727504010
openSNPrs727504010
23andMers727504010
23andMe allrs727504010
SNP Nexus

SNPshotrs727504010
SNPdbers727504010
MSV3drs727504010
GWAS Ctlgrs727504010
Max Magnitude0
ClinVar
Risk rs727504010(T;T)
Alt rs727504010(T;T)
Reference rs727504010(C;C)
Significance Pathogenic
Disease not provided 3-methylcrotonyl CoA carboxylase 2 deficiency
Variation info
Gene MCCC2
CLNDBN not provided 3-methylcrotonyl CoA carboxylase 2 deficiency
Reversed 0
HGVS NC_000005.9:g.70931068C>T
CLNSRC HGMD
CLNACC RCV000153474.2, RCV000173893.1,