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rs727504005

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727504005(A;A)
Make rs727504005(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position183071121
GeneMCCC1
is asnp
is mentioned by
dbSNPrs727504005
ebirs727504005
HLIrs727504005
Exacrs727504005
Varsomers727504005
Maprs727504005
PheGenIrs727504005
hapmaprs727504005
1000 genomesrs727504005
hgdprs727504005
ensemblrs727504005
gopubmedrs727504005
geneviewrs727504005
scholarrs727504005
googlers727504005
pharmgkbrs727504005
gwascentralrs727504005
openSNPrs727504005
23andMers727504005
23andMe allrs727504005
SNP Nexus

SNPshotrs727504005
SNPdbers727504005
MSV3drs727504005
GWAS Ctlgrs727504005
Max Magnitude0
ClinVar
Risk rs727504005(A;A)
Alt rs727504005(A;A)
Reference rs727504005(G;G)
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.182788909C>T
CLNSRC
CLNACC RCV000153468.2, RCV000179962.1,