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rs727504002

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727504002(-;-)
Make rs727504002(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position183037286
GeneMCCC1
is asnp
is mentioned by
dbSNPrs727504002
ebirs727504002
HLIrs727504002
Exacrs727504002
Varsomers727504002
Maprs727504002
PheGenIrs727504002
hapmaprs727504002
1000 genomesrs727504002
hgdprs727504002
ensemblrs727504002
gopubmedrs727504002
geneviewrs727504002
scholarrs727504002
googlers727504002
pharmgkbrs727504002
gwascentralrs727504002
openSNPrs727504002
23andMers727504002
23andMe allrs727504002
SNP Nexus

SNPshotrs727504002
SNPdbers727504002
MSV3drs727504002
GWAS Ctlgrs727504002
Max Magnitude0
ClinVar
Risk rs727504002(;)
Alt rs727504002(;)
Reference rs727504002(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.182755074delC
CLNSRC HGMD
CLNACC RCV000153463.2, RCV000174585.1,