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rs727504006

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727504006(A;G)
Make rs727504006(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position183092547
GeneMCCC1
is asnp
is mentioned by
dbSNPrs727504006
ebirs727504006
HLIrs727504006
Exacrs727504006
Varsomers727504006
Maprs727504006
PheGenIrs727504006
hapmaprs727504006
1000 genomesrs727504006
hgdprs727504006
ensemblrs727504006
gopubmedrs727504006
geneviewrs727504006
scholarrs727504006
googlers727504006
pharmgkbrs727504006
gwascentralrs727504006
openSNPrs727504006
23andMers727504006
23andMe allrs727504006
SNP Nexus

SNPshotrs727504006
SNPdbers727504006
MSV3drs727504006
GWAS Ctlgrs727504006
Max Magnitude0
ClinVar
Risk rs727504006(G;G)
Alt rs727504006(G;G)
Reference rs727504006(A;A)
Significance Pathogenic
Disease not provided 3 Methylcrotonyl-CoA carboxylase 1 deficiency
Variation info
Gene MCCC1
CLNDBN not provided 3 Methylcrotonyl-CoA carboxylase 1 deficiency
Reversed 1
HGVS NC_000003.11:g.182810335T>C
CLNSRC HGMD
CLNACC RCV000153469.2, RCV000177313.1,