rs587777695
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 5 | acromelic frontonasal dysostosis possible |
Make rs587777695(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 5 |
Position | 61544156 |
Gene | ZSWIM6 |
is a | snp |
is | mentioned by |
dbSNP | rs587777695 |
dbSNP (classic) | rs587777695 |
ClinGen | rs587777695 |
ebi | rs587777695 |
HLI | rs587777695 |
Exac | rs587777695 |
Gnomad | rs587777695 |
Varsome | rs587777695 |
LitVar | rs587777695 |
Map | rs587777695 |
PheGenI | rs587777695 |
Biobank | rs587777695 |
1000 genomes | rs587777695 |
hgdp | rs587777695 |
ensembl | rs587777695 |
geneview | rs587777695 |
scholar | rs587777695 |
rs587777695 | |
pharmgkb | rs587777695 |
gwascentral | rs587777695 |
openSNP | rs587777695 |
23andMe | rs587777695 |
SNPshot | rs587777695 |
SNPdbe | rs587777695 |
MSV3d | rs587777695 |
GWAS Ctlg | rs587777695 |
Max Magnitude | 5 |
rs587777695, also known as R1163W, is a mutation in the ZSWIM6 gene on chromosome 5.
See OMIM 615951.0001
ClinVar | |
---|---|
Risk | rs587777695(T;T) |
Alt | rs587777695(T;T) |
Reference | Rs587777695(C;C) |
Significance | Pathogenic |
Disease | Acromelic frontonasal dysostosis not provided |
Variation | info |
Gene | ZSWIM6 |
CLNDBN | Acromelic frontonasal dysostosis not provided |
Reversed | 0 |
HGVS | NC_000005.9:g.60839983C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000143865.5, RCV000478201.1, |