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rs761635539

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs761635539(A;A)
Make rs761635539(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position6495931
GeneTUBB4A
is asnp
is mentioned by
dbSNPrs761635539
dbSNP (classic)rs761635539
ClinGenrs761635539
ebirs761635539
HLIrs761635539
Exacrs761635539
Gnomadrs761635539
Varsomers761635539
LitVarrs761635539
Maprs761635539
PheGenIrs761635539
Biobankrs761635539
1000 genomesrs761635539
hgdprs761635539
ensemblrs761635539
geneviewrs761635539
scholarrs761635539
googlers761635539
pharmgkbrs761635539
gwascentralrs761635539
openSNPrs761635539
23andMers761635539
SNPshotrs761635539
SNPdbers761635539
MSV3drs761635539
GWAS Ctlgrs761635539
Max Magnitude0
ClinVar
Risk rs761635539(A;A)
Alt rs761635539(A;A)
Reference Rs761635539(G;G)
Significance Pathogenic
Disease Leukodystrophy
Variation info
Gene TUBB4A
CLNDBN Leukodystrophy, hypomyelinating, 6
Reversed 0
HGVS NC_000019.9:g.6495942G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000173012.2,