rs397514494
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397514494(A;A) |
Make rs397514494(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 109808298 |
Gene | TRPV4 |
is a | snp |
is | mentioned by |
dbSNP | rs397514494 |
dbSNP (classic) | rs397514494 |
ClinGen | rs397514494 |
ebi | rs397514494 |
HLI | rs397514494 |
Exac | rs397514494 |
Gnomad | rs397514494 |
Varsome | rs397514494 |
LitVar | rs397514494 |
Map | rs397514494 |
PheGenI | rs397514494 |
Biobank | rs397514494 |
1000 genomes | rs397514494 |
hgdp | rs397514494 |
ensembl | rs397514494 |
geneview | rs397514494 |
scholar | rs397514494 |
rs397514494 | |
pharmgkb | rs397514494 |
gwascentral | rs397514494 |
openSNP | rs397514494 |
23andMe | rs397514494 |
SNPshot | rs397514494 |
SNPdbe | rs397514494 |
MSV3d | rs397514494 |
GWAS Ctlg | rs397514494 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514494(A;A) |
Alt | rs397514494(A;A) |
Reference | Rs397514494(G;G) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease type 2C Distal spinal muscular atrophy Neuromuscular Diseases not provided |
Variation | info |
Gene | TRPV4 |
CLNDBN | Charcot-Marie-Tooth disease type 2C Distal spinal muscular atrophy, congenital nonprogressive Neuromuscular Diseases not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.110246103C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032600.4, RCV000190887.3, RCV000202485.1, RCV000235384.1, |