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rs387907048

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907048(A;G)
Make rs387907048(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position87521475
GeneRARS2
is asnp
is mentioned by
dbSNPrs387907048
ebirs387907048
HLIrs387907048
Exacrs387907048
Varsomers387907048
Maprs387907048
PheGenIrs387907048
hapmaprs387907048
1000 genomesrs387907048
hgdprs387907048
ensemblrs387907048
gopubmedrs387907048
geneviewrs387907048
scholarrs387907048
googlers387907048
pharmgkbrs387907048
gwascentralrs387907048
openSNPrs387907048
23andMers387907048
23andMe allrs387907048
SNP Nexus

SNPshotrs387907048
SNPdbers387907048
MSV3drs387907048
GWAS Ctlgrs387907048
Max Magnitude0
ClinVar
Risk rs387907048(G;G)
Alt rs387907048(G;G)
Reference rs387907048(A;A)
Significance Pathogenic
Disease Pontocerebellar hypoplasia type 6
Variation info
Gene RARS2
CLNDBN Pontocerebellar hypoplasia type 6
Reversed 1
HGVS NC_000006.11:g.88231193T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023898.4,