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rs483352809

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs483352809(A;A)
Make rs483352809(A;G)
ReferenceGRCh38 38.1/142
Chromosome19
Position6495754
GeneTUBB4A
is asnp
is mentioned by
dbSNPrs483352809
ebirs483352809
HLIrs483352809
Exacrs483352809
Varsomers483352809
Maprs483352809
PheGenIrs483352809
hapmaprs483352809
1000 genomesrs483352809
hgdprs483352809
ensemblrs483352809
gopubmedrs483352809
geneviewrs483352809
scholarrs483352809
googlers483352809
pharmgkbrs483352809
gwascentralrs483352809
openSNPrs483352809
23andMers483352809
23andMe allrs483352809
SNP Nexus

SNPshotrs483352809
SNPdbers483352809
MSV3drs483352809
GWAS Ctlgrs483352809
Max Magnitude0
ClinVar
Risk rs483352809(A;A)
Alt rs483352809(A;A)
Reference rs483352809(G;G)
Significance Pathogenic
Disease Leukodystrophy
Variation info
Gene TUBB4A
CLNDBN Leukodystrophy, hypomyelinating, 6
Reversed 1
HGVS NC_000019.9:g.6495765C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000043681.4,