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rs139721632

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs139721632(A;A)
Make rs139721632(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position87529602
GeneRARS2
is asnp
is mentioned by
dbSNPrs139721632
dbSNP (old)rs139721632
ClinGenrs139721632
ebirs139721632
HLIrs139721632
Exacrs139721632
Gnomadrs139721632
Varsomers139721632
Maprs139721632
PheGenIrs139721632
Biobankrs139721632
1000 genomesrs139721632
hgdprs139721632
ensemblrs139721632
gopubmedrs139721632
geneviewrs139721632
scholarrs139721632
googlers139721632
pharmgkbrs139721632
gwascentralrs139721632
openSNPrs139721632
23andMers139721632
23andMe allrs139721632
SNP Nexus

SNPshotrs139721632
SNPdbers139721632
MSV3drs139721632
GWAS Ctlgrs139721632
Max Magnitude0
ClinVar
Risk rs139721632(A;A) rs139721632(G;G) rs139721632(T;T)
Alt rs139721632(A;A) rs139721632(G;G) rs139721632(T;T)
Reference Rs139721632(C;C)
Significance Probable-Pathogenic
Disease not specified Pontoneocerebellar hypoplasia
Variation info
Gene RARS2
CLNDBN not specified Pontoneocerebellar hypoplasia
Reversed 0
HGVS NC_000006.11:g.88239320C>A; NC_000006.11:g.88239320C>G
CLNSRC
CLNACC RCV000196972.1, RCV000359352.1, RCV000266998.1,