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rs139644798

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 3 Carrier of a mutation for hypomyelinating Leukodystrophy
(T;T) 7 hypomyelinating Leukodystrophy
ReferenceGRCh38.p7 38.3/149
Chromosome5
Position168510601
GeneRARS
is asnp
is mentioned by
dbSNPrs139644798
dbSNP (old)rs139644798
ClinGenrs139644798
ebirs139644798
HLIrs139644798
Exacrs139644798
Gnomadrs139644798
Varsomers139644798
Maprs139644798
PheGenIrs139644798
Biobankrs139644798
1000 genomesrs139644798
hgdprs139644798
ensemblrs139644798
gopubmedrs139644798
geneviewrs139644798
scholarrs139644798
googlers139644798
pharmgkbrs139644798
gwascentralrs139644798
openSNPrs139644798
23andMers139644798
23andMe allrs139644798
SNPshotrs139644798
SNPdbers139644798
MSV3drs139644798
GWAS Ctlgrs139644798
Max Magnitude7

RARS gene, c.1367C>T (p.Ser456Leu)

Minor allele is reported in ClinVar as pathogenic for hypomyelinating Leukodystrophy

ClinVar
Risk Rs139644798(T;T)
Alt Rs139644798(T;T)
Reference Rs139644798(C;C)
Significance Pathogenic
Disease Leukodystrophy
Variation info
Gene RARS
CLNDBN Leukodystrophy, hypomyelinating, 9
Reversed 0
HGVS NC_000005.9:g.167937606C>T
CLNSRC
CLNACC RCV000256219.1,