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rs730880028

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880028(C;T)
Make rs730880028(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position219251056
GeneTUBA4A
is asnp
is mentioned by
dbSNPrs730880028
ebirs730880028
HLIrs730880028
Exacrs730880028
Varsomers730880028
Maprs730880028
PheGenIrs730880028
hapmaprs730880028
1000 genomesrs730880028
hgdprs730880028
ensemblrs730880028
gopubmedrs730880028
geneviewrs730880028
scholarrs730880028
googlers730880028
pharmgkbrs730880028
gwascentralrs730880028
openSNPrs730880028
23andMers730880028
23andMe allrs730880028
SNP Nexus

SNPshotrs730880028
SNPdbers730880028
MSV3drs730880028
GWAS Ctlgrs730880028
Max Magnitude0
ClinVar
Risk rs730880028(T;T)
Alt rs730880028(T;T)
Reference rs730880028(C;C)
Significance Pathogenic
Disease Amyotrophic lateral sclerosis 22 with frontotemporal dementia
Variation info
Gene TUBA4A
CLNDBN Amyotrophic lateral sclerosis 22 with frontotemporal dementia
Reversed 1
HGVS NC_000002.11:g.220115778G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000157037.3,