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rs730880025

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880025(C;T)
Make rs730880025(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position219250741
GeneSTK16, TUBA4A
is asnp
is mentioned by
dbSNPrs730880025
dbSNP (classic)rs730880025
ClinGenrs730880025
ebirs730880025
HLIrs730880025
Exacrs730880025
Gnomadrs730880025
Varsomers730880025
LitVarrs730880025
Maprs730880025
PheGenIrs730880025
Biobankrs730880025
1000 genomesrs730880025
hgdprs730880025
ensemblrs730880025
geneviewrs730880025
scholarrs730880025
googlers730880025
pharmgkbrs730880025
gwascentralrs730880025
openSNPrs730880025
23andMers730880025
SNPshotrs730880025
SNPdbers730880025
MSV3drs730880025
GWAS Ctlgrs730880025
Max Magnitude0
ClinVar
Risk rs730880025(T;T)
Alt rs730880025(T;T)
Reference Rs730880025(C;C)
Significance Pathogenic
Disease Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia
Variation info
Gene STK16 TUBA4A
CLNDBN Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia
Reversed 1
HGVS NC_000002.11:g.220115463G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000157034.3,