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rs672601373

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs672601373(G;T)
Make rs672601373(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position168486544
GeneRARS
is asnp
is mentioned by
dbSNPrs672601373
dbSNP (classic)rs672601373
ClinGenrs672601373
ebirs672601373
HLIrs672601373
Exacrs672601373
Gnomadrs672601373
Varsomers672601373
LitVarrs672601373
Maprs672601373
PheGenIrs672601373
Biobankrs672601373
1000 genomesrs672601373
hgdprs672601373
ensemblrs672601373
geneviewrs672601373
scholarrs672601373
googlers672601373
pharmgkbrs672601373
gwascentralrs672601373
openSNPrs672601373
23andMers672601373
SNPshotrs672601373
SNPdbers672601373
MSV3drs672601373
GWAS Ctlgrs672601373
Max Magnitude0
ClinVar
Risk rs672601373(T;T)
Alt rs672601373(T;T)
Reference Rs672601373(G;G)
Significance Pathogenic
Disease Leukodystrophy
Variation info
Gene RARS
CLNDBN Leukodystrophy, hypomyelinating, 9
Reversed 0
HGVS NC_000005.9:g.167913549G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000149499.4,