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rs119103214

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119103214(C;C)
Make rs119103214(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position183037218
GeneMCCC1
is asnp
is mentioned by
dbSNPrs119103214
ebirs119103214
HLIrs119103214
Exacrs119103214
Varsomers119103214
Maprs119103214
PheGenIrs119103214
hapmaprs119103214
1000 genomesrs119103214
hgdprs119103214
ensemblrs119103214
gopubmedrs119103214
geneviewrs119103214
scholarrs119103214
googlers119103214
pharmgkbrs119103214
gwascentralrs119103214
openSNPrs119103214
23andMers119103214
23andMe allrs119103214
SNP Nexus

SNPshotrs119103214
SNPdbers119103214
MSV3drs119103214
GWAS Ctlgrs119103214
Max Magnitude0
OMIM609010
Desc
Variant0003
Relatedalso
ClinVar
Risk rs119103214(C;C)
Alt rs119103214(C;C)
Reference rs119103214(G;G)
Significance Pathogenic
Disease 3 Methylcrotonyl-CoA carboxylase 1 deficiency
Variation info
Gene MCCC1
CLNDBN 3 Methylcrotonyl-CoA carboxylase 1 deficiency
Reversed 1
HGVS NC_000003.11:g.182755006C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002008.3,