rs397515422
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397515422(C;T) |
Make rs397515422(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 101644783 |
Gene | MYBPC1 |
is a | snp |
is | mentioned by |
dbSNP | rs397515422 |
dbSNP (classic) | rs397515422 |
ClinGen | rs397515422 |
ebi | rs397515422 |
HLI | rs397515422 |
Exac | rs397515422 |
Gnomad | rs397515422 |
Varsome | rs397515422 |
LitVar | rs397515422 |
Map | rs397515422 |
PheGenI | rs397515422 |
Biobank | rs397515422 |
1000 genomes | rs397515422 |
hgdp | rs397515422 |
ensembl | rs397515422 |
geneview | rs397515422 |
scholar | rs397515422 |
rs397515422 | |
pharmgkb | rs397515422 |
gwascentral | rs397515422 |
openSNP | rs397515422 |
23andMe | rs397515422 |
SNPshot | rs397515422 |
SNPdbe | rs397515422 |
MSV3d | rs397515422 |
GWAS Ctlg | rs397515422 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515422(T;T) |
Alt | rs397515422(T;T) |
Reference | Rs397515422(C;C) |
Significance | Pathogenic |
Disease | Lethal congenital contracture syndrome 4 |
Variation | info |
Gene | MYBPC1 |
CLNDBN | Lethal congenital contracture syndrome 4 |
Reversed | 0 |
HGVS | NC_000012.11:g.102038561C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032985.22, |