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rs797045105

From SNPedia

Orientationminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045105(-;CATG)
Make rs797045105(CATG;CATG)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position158150452
GeneSERAC1
is asnp
is mentioned by
dbSNPrs797045105
ClinGenrs797045105
ebirs797045105
HLIrs797045105
Exacrs797045105
Varsomers797045105
Maprs797045105
PheGenIrs797045105
hapmaprs797045105
1000 genomesrs797045105
hgdprs797045105
ensemblrs797045105
gopubmedrs797045105
geneviewrs797045105
scholarrs797045105
googlers797045105
pharmgkbrs797045105
gwascentralrs797045105
openSNPrs797045105
23andMers797045105
23andMe allrs797045105
SNP Nexus

SNPshotrs797045105
SNPdbers797045105
MSV3drs797045105
GWAS Ctlgrs797045105
Max Magnitude0
ClinVar
Risk rs797045105(CATG;CATG)
Alt rs797045105(CATG;CATG)
Reference Rs797045105(;)
Significance Probable-Pathogenic
Disease 3-methylglutaconic aciduria with deafness
Variation info
Gene SERAC1
CLNDBN 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Reversed 1
HGVS NC_000006.11:g.158571484_158571485insCATG
CLNSRC
CLNACC RCV000190622.1,