rs796051850
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs796051850(C;T) |
Make rs796051850(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 7 |
Position | 259870 |
Gene | FAM20C, LOC107986752 |
is a | snp |
is | mentioned by |
dbSNP | rs796051850 |
dbSNP (classic) | rs796051850 |
ClinGen | rs796051850 |
ebi | rs796051850 |
HLI | rs796051850 |
Exac | rs796051850 |
Gnomad | rs796051850 |
Varsome | rs796051850 |
LitVar | rs796051850 |
Map | rs796051850 |
PheGenI | rs796051850 |
Biobank | rs796051850 |
1000 genomes | rs796051850 |
hgdp | rs796051850 |
ensembl | rs796051850 |
geneview | rs796051850 |
scholar | rs796051850 |
rs796051850 | |
pharmgkb | rs796051850 |
gwascentral | rs796051850 |
openSNP | rs796051850 |
23andMe | rs796051850 |
SNPshot | rs796051850 |
SNPdbe | rs796051850 |
MSV3d | rs796051850 |
GWAS Ctlg | rs796051850 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796051850(T;T) |
Alt | rs796051850(T;T) |
Reference | Rs796051850(C;C) |
Significance | Pathogenic |
Disease | Raine syndrome |
Variation | info |
Gene | FAM20C |
CLNDBN | Raine syndrome |
Reversed | 0 |
HGVS | NC_000007.13:g.299836C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001080.3, |