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rs397515410

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515410(C;G)
Make rs397515410(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position140695810
GeneHARS2
is asnp
is mentioned by
dbSNPrs397515410
dbSNP (classic)rs397515410
ClinGenrs397515410
ebirs397515410
HLIrs397515410
Exacrs397515410
Gnomadrs397515410
Varsomers397515410
LitVarrs397515410
Maprs397515410
PheGenIrs397515410
Biobankrs397515410
1000 genomesrs397515410
hgdprs397515410
ensemblrs397515410
geneviewrs397515410
scholarrs397515410
googlers397515410
pharmgkbrs397515410
gwascentralrs397515410
openSNPrs397515410
23andMers397515410
SNPshotrs397515410
SNPdbers397515410
MSV3drs397515410
GWAS Ctlgrs397515410
Max Magnitude0
ClinVar
Risk rs397515410(G;G)
Alt rs397515410(G;G)
Reference Rs397515410(C;C)
Significance Other
Disease Perrault syndrome 2
Variation info
Gene HARS2
CLNDBN Perrault syndrome 2
Reversed 0
HGVS NC_000005.9:g.140075395C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000032820.6,