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rs797044772

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CAGA;CAGA) 0 common in clinvar
Make rs797044772(CAGA;TTGTCGAGGTAAGTGT)
Make rs797044772(TTGTCGAGGTAAGTGT;TTGTCGAGGTAAGTGT)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position71604401
GeneMCCC2
is asnp
is mentioned by
dbSNPrs797044772
dbSNP (old)rs797044772
ClinGenrs797044772
ebirs797044772
HLIrs797044772
Exacrs797044772
Varsomers797044772
Maprs797044772
PheGenIrs797044772
Biobankrs797044772
1000 genomesrs797044772
hgdprs797044772
ensemblrs797044772
gopubmedrs797044772
geneviewrs797044772
scholarrs797044772
googlers797044772
pharmgkbrs797044772
gwascentralrs797044772
openSNPrs797044772
23andMers797044772
23andMe allrs797044772
SNP Nexus

SNPshotrs797044772
SNPdbers797044772
MSV3drs797044772
GWAS Ctlgrs797044772
Max Magnitude0
ClinVar
Risk rs797044772(TTGTCGAGGTAAGTGT;TTGTCGAGGTAAGTGT)
Alt rs797044772(TTGTCGAGGTAAGTGT;TTGTCGAGGTAAGTGT)
Reference Rs797044772(CAGA;CAGA)
Significance Probable-Pathogenic
Disease 3-methylcrotonyl CoA carboxylase 2 deficiency
Variation info
Gene MCCC2
CLNDBN 3-methylcrotonyl CoA carboxylase 2 deficiency
Reversed 0
HGVS NC_000005.9:g.70900228_70900231delCAGAinsTTGTCGAGGTAAGTGT
CLNSRC
CLNACC RCV000179521.1,