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rs724159969

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs724159969(C;T)
Make rs724159969(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position106327456
GeneAIMP1
is asnp
is mentioned by
dbSNPrs724159969
ebirs724159969
HLIrs724159969
Exacrs724159969
Varsomers724159969
Maprs724159969
PheGenIrs724159969
hapmaprs724159969
1000 genomesrs724159969
hgdprs724159969
ensemblrs724159969
gopubmedrs724159969
geneviewrs724159969
scholarrs724159969
googlers724159969
pharmgkbrs724159969
gwascentralrs724159969
openSNPrs724159969
23andMers724159969
23andMe allrs724159969
SNP Nexus

SNPshotrs724159969
SNPdbers724159969
MSV3drs724159969
GWAS Ctlgrs724159969
Max Magnitude0
ClinVar
Risk rs724159969(T;T)
Alt rs724159969(T;T)
Reference rs724159969(C;C)
Significance Pathogenic
Disease Leukodystrophy
Variation info
Gene AIMP1
CLNDBN Leukodystrophy, hypomyelinating 3
Reversed 0
HGVS NC_000004.11:g.107248613C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000149770.3,