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rs727504001

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727504001(-;-)
Make rs727504001(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position183020202
GeneMCCC1
is asnp
is mentioned by
dbSNPrs727504001
ebirs727504001
HLIrs727504001
Exacrs727504001
Varsomers727504001
Maprs727504001
PheGenIrs727504001
hapmaprs727504001
1000 genomesrs727504001
hgdprs727504001
ensemblrs727504001
gopubmedrs727504001
geneviewrs727504001
scholarrs727504001
googlers727504001
pharmgkbrs727504001
gwascentralrs727504001
openSNPrs727504001
23andMers727504001
23andMe allrs727504001
SNP Nexus

SNPshotrs727504001
SNPdbers727504001
MSV3drs727504001
GWAS Ctlgrs727504001
Max Magnitude0
ClinVar
Risk rs727504001(;)
Alt rs727504001(;)
Reference rs727504001(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.182737990delT
CLNSRC
CLNACC RCV000153461.2, RCV000175221.1,