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rs119103219

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs119103219(C;C)
Make rs119103219(C;G)
ReferenceGRCh37 37.1/132
Chromosome5
Position71599672
GeneMCCC2
is asnp
is mentioned by
dbSNPrs119103219
dbSNP (classic)rs119103219
ClinGenrs119103219
ebirs119103219
HLIrs119103219
Exacrs119103219
Gnomadrs119103219
Varsomers119103219
LitVarrs119103219
Maprs119103219
PheGenIrs119103219
Biobankrs119103219
1000 genomesrs119103219
hgdprs119103219
ensemblrs119103219
geneviewrs119103219
scholarrs119103219
googlers119103219
pharmgkbrs119103219
gwascentralrs119103219
openSNPrs119103219
23andMers119103219
SNPshotrs119103219
SNPdbers119103219
MSV3drs119103219
GWAS Ctlgrs119103219
GMAF0.0009183
Max Magnitude0
OMIM609014
Desc
Variant0002
Relatedalso
ClinVar
Risk rs119103219(C;C)
Alt rs119103219(C;C)
Reference Rs119103219(G;G)
Significance Pathogenic
Disease 3-methylcrotonyl CoA carboxylase 2 deficiency not provided
Variation info
Gene MCCC2
CLNDBN 3-methylcrotonyl CoA carboxylase 2 deficiency not provided
Reversed 0
HGVS NC_000005.9:g.70895499G>C
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001997.4, RCV000082095.4,