rs80338760
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs80338760(C;C) |
Make rs80338760(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 77320193 |
Gene | SEPT9 |
is a | snp |
is | mentioned by |
dbSNP | rs80338760 |
dbSNP (classic) | rs80338760 |
ClinGen | rs80338760 |
ebi | rs80338760 |
HLI | rs80338760 |
Exac | rs80338760 |
Gnomad | rs80338760 |
Varsome | rs80338760 |
LitVar | rs80338760 |
Map | rs80338760 |
PheGenI | rs80338760 |
Biobank | rs80338760 |
1000 genomes | rs80338760 |
hgdp | rs80338760 |
ensembl | rs80338760 |
geneview | rs80338760 |
scholar | rs80338760 |
rs80338760 | |
pharmgkb | rs80338760 |
gwascentral | rs80338760 |
openSNP | rs80338760 |
23andMe | rs80338760 |
SNPshot | rs80338760 |
SNPdbe | rs80338760 |
MSV3d | rs80338760 |
GWAS Ctlg | rs80338760 |
Max Magnitude | 0 |
[PMID 27569544] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
ClinVar | |
---|---|
Risk | rs80338760(C;C) |
Alt | rs80338760(C;C) |
Reference | Rs80338760(G;G) |
Significance | Pathogenic |
Disease | Amyotrophy |
Variation | info |
Gene | SEPT9 |
CLNDBN | Amyotrophy, hereditary neuralgic |
Reversed | 0 |
HGVS | NC_000017.10:g.75316275G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006223.1, |
[PMID 16186812] Mutations in SEPT9 cause hereditary neuralgic amyotrophy.