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rs185741664

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs185741664(A;A)
Make rs185741664(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position183057343
GeneMCCC1
is asnp
is mentioned by
dbSNPrs185741664
dbSNP (classic)rs185741664
ClinGenrs185741664
ebirs185741664
HLIrs185741664
Exacrs185741664
Gnomadrs185741664
Varsomers185741664
LitVarrs185741664
Maprs185741664
PheGenIrs185741664
Biobankrs185741664
1000 genomesrs185741664
hgdprs185741664
ensemblrs185741664
geneviewrs185741664
scholarrs185741664
googlers185741664
pharmgkbrs185741664
gwascentralrs185741664
openSNPrs185741664
23andMers185741664
SNPshotrs185741664
SNPdbers185741664
MSV3drs185741664
GWAS Ctlgrs185741664
Max Magnitude0
ClinVar
Risk rs185741664(A;A)
Alt rs185741664(A;A)
Reference Rs185741664(G;G)
Significance Pathogenic
Disease 3 Methylcrotonyl-CoA carboxylase 1 deficiency
Variation info
Gene MCCC1
CLNDBN 3 Methylcrotonyl-CoA carboxylase 1 deficiency
Reversed 0
HGVS NC_000003.11:g.182775131G>A
CLNSRC
CLNACC RCV000281372.1,