rs28933081
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs28933081(A;A) |
Make rs28933081(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 4860264 |
Gene | MSX1 |
is a | snp |
is | mentioned by |
dbSNP | rs28933081 |
dbSNP (classic) | rs28933081 |
ClinGen | rs28933081 |
ebi | rs28933081 |
HLI | rs28933081 |
Exac | rs28933081 |
Gnomad | rs28933081 |
Varsome | rs28933081 |
LitVar | rs28933081 |
Map | rs28933081 |
PheGenI | rs28933081 |
Biobank | rs28933081 |
1000 genomes | rs28933081 |
hgdp | rs28933081 |
ensembl | rs28933081 |
geneview | rs28933081 |
scholar | rs28933081 |
rs28933081 | |
pharmgkb | rs28933081 |
gwascentral | rs28933081 |
openSNP | rs28933081 |
23andMe | rs28933081 |
SNPshot | rs28933081 |
SNPdbe | rs28933081 |
MSV3d | rs28933081 |
GWAS Ctlg | rs28933081 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28933081(A;A) rs28933081(T;T) |
Alt | rs28933081(A;A) rs28933081(T;T) |
Reference | Rs28933081(G;G) |
Significance | Pathogenic |
Disease | Orofacial cleft 5 |
Variation | info |
Gene | MSX1 |
CLNDBN | Orofacial cleft 5 |
Reversed | 0 |
HGVS | NC_000004.11:g.4861991G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016013.25, |