rs267606795
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 9 | Raine syndrome |
(C;G) | 3 | unaffected carrier of Raine syndrome allele |
(G;G) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 255869 |
Gene | FAM20C |
is a | snp |
is | mentioned by |
dbSNP | rs267606795 |
dbSNP (classic) | rs267606795 |
ClinGen | rs267606795 |
ebi | rs267606795 |
HLI | rs267606795 |
Exac | rs267606795 |
Gnomad | rs267606795 |
Varsome | rs267606795 |
LitVar | rs267606795 |
Map | rs267606795 |
PheGenI | rs267606795 |
Biobank | rs267606795 |
1000 genomes | rs267606795 |
hgdp | rs267606795 |
ensembl | rs267606795 |
geneview | rs267606795 |
scholar | rs267606795 |
rs267606795 | |
pharmgkb | rs267606795 |
gwascentral | rs267606795 |
openSNP | rs267606795 |
23andMe | rs267606795 |
SNPshot | rs267606795 |
SNPdbe | rs267606795 |
MSV3d | rs267606795 |
GWAS Ctlg | rs267606795 |
Max Magnitude | 9 |
ClinVar | |
---|---|
Risk | Rs267606795(C;C) |
Alt | Rs267606795(C;C) |
Reference | Rs267606795(G;G) |
Significance | Pathogenic |
Disease | Raine syndrome |
Variation | info |
Gene | FAM20C |
CLNDBN | Raine syndrome |
Reversed | 0 |
HGVS | NC_000007.13:g.295835G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001078.3, |