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rs119103217

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs119103217(-;-)
Make rs119103217(-;A)
ReferenceGRCh38 38.1/141
Chromosome3
Position183015537
GeneMCCC1
is asnp
is mentioned by
dbSNPrs119103217
ebirs119103217
HLIrs119103217
Exacrs119103217
Varsomers119103217
Maprs119103217
PheGenIrs119103217
hapmaprs119103217
1000 genomesrs119103217
hgdprs119103217
ensemblrs119103217
gopubmedrs119103217
geneviewrs119103217
scholarrs119103217
googlers119103217
pharmgkbrs119103217
gwascentralrs119103217
openSNPrs119103217
23andMers119103217
23andMe allrs119103217
SNP Nexus

SNPshotrs119103217
SNPdbers119103217
MSV3drs119103217
GWAS Ctlgrs119103217
Max Magnitude0
OMIM609010
Desc
Variant0006
Relatedalso
ClinVar
Risk rs119103217(;)
Alt rs119103217(;)
Reference rs119103217(A;A)
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.182733325delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000002011.3,