Have questions? Visit https://www.reddit.com/r/SNPedia

rs72466496

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs72466496(C;T)
Make rs72466496(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position74361590
GeneDCTN1
is asnp
is mentioned by
dbSNPrs72466496
dbSNP (classic)rs72466496
ClinGenrs72466496
ebirs72466496
HLIrs72466496
Exacrs72466496
Gnomadrs72466496
Varsomers72466496
LitVarrs72466496
Maprs72466496
PheGenIrs72466496
Biobankrs72466496
1000 genomesrs72466496
hgdprs72466496
ensemblrs72466496
geneviewrs72466496
scholarrs72466496
googlers72466496
pharmgkbrs72466496
gwascentralrs72466496
openSNPrs72466496
23andMers72466496
SNPshotrs72466496
SNPdbers72466496
MSV3drs72466496
GWAS Ctlgrs72466496
GMAF0.0004591
Max Magnitude0
OMIM601143
Desc
Variant0002
Relatedalso


ClinVar
Risk rs72466496(T;T)
Alt rs72466496(T;T)
Reference Rs72466496(C;C)
Significance Other
Disease Amyotrophic lateral sclerosis not provided Perry syndrome
Variation info
Gene DCTN1
CLNDBN Amyotrophic lateral sclerosis, susceptibility to not provided Perry syndrome
Reversed 1
HGVS NC_000002.11:g.74588717G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008910.2, RCV000143802.1, RCV000263003.1,