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rs63751294

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs63751294(C;T)
Make rs63751294(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position44352404
GeneGRN
is asnp
is mentioned by
dbSNPrs63751294
ebirs63751294
HLIrs63751294
Exacrs63751294
Varsomers63751294
Maprs63751294
PheGenIrs63751294
hapmaprs63751294
1000 genomesrs63751294
hgdprs63751294
ensemblrs63751294
gopubmedrs63751294
geneviewrs63751294
scholarrs63751294
googlers63751294
pharmgkbrs63751294
gwascentralrs63751294
openSNPrs63751294
23andMers63751294
23andMe allrs63751294
SNP Nexus

SNPshotrs63751294
SNPdbers63751294
MSV3drs63751294
GWAS Ctlgrs63751294
Max Magnitude0
OMIM138945
Desc
Variant0009
Relatedalso


ClinVar
Risk rs63751294(T;T)
Alt rs63751294(T;T)
Reference rs63751294(C;C)
Significance Pathogenic
Disease Frontotemporal dementia not provided
Variation info
Gene GRN
CLNDBN Frontotemporal dementia, ubiquitin-positive not provided
Reversed 0
HGVS NC_000017.10:g.42429772C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017387.28, RCV000084491.1,



[PMID 16983677OA-icon.png] Characteristics of frontotemporal dementia patients with a Progranulin mutation.

[PMID 17210807] Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families.

[PMID 17522386OA-icon.png] Clinicopathologic correlation in PGRN mutations.

[PMID 17826340] Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.

[PMID 18703462] Distinct genetic forms of frontotemporal dementia.