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rs672601374

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs672601374(-;-)
Make rs672601374(-;TG)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position168488652
GeneRARS
is asnp
is mentioned by
dbSNPrs672601374
dbSNP (classic)rs672601374
ClinGenrs672601374
ebirs672601374
HLIrs672601374
Exacrs672601374
Gnomadrs672601374
Varsomers672601374
LitVarrs672601374
Maprs672601374
PheGenIrs672601374
Biobankrs672601374
1000 genomesrs672601374
hgdprs672601374
ensemblrs672601374
geneviewrs672601374
scholarrs672601374
googlers672601374
pharmgkbrs672601374
gwascentralrs672601374
openSNPrs672601374
23andMers672601374
SNPshotrs672601374
SNPdbers672601374
MSV3drs672601374
GWAS Ctlgrs672601374
Max Magnitude0
ClinVar
Risk rs672601374(-;-)
Alt rs672601374(-;-)
Reference Rs672601374(TG;TG)
Significance Pathogenic
Disease Leukodystrophy
Variation info
Gene RARS
CLNDBN Leukodystrophy, hypomyelinating, 9
Reversed 0
HGVS NC_000005.9:g.167915657_167915658delTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000149500.3,