rs797044462
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs797044462(C;T) |
Make rs797044462(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 7 |
Position | 248340 |
Gene | FAM20C |
is a | snp |
is | mentioned by |
dbSNP | rs797044462 |
dbSNP (classic) | rs797044462 |
ClinGen | rs797044462 |
ebi | rs797044462 |
HLI | rs797044462 |
Exac | rs797044462 |
Gnomad | rs797044462 |
Varsome | rs797044462 |
LitVar | rs797044462 |
Map | rs797044462 |
PheGenI | rs797044462 |
Biobank | rs797044462 |
1000 genomes | rs797044462 |
hgdp | rs797044462 |
ensembl | rs797044462 |
geneview | rs797044462 |
scholar | rs797044462 |
rs797044462 | |
pharmgkb | rs797044462 |
gwascentral | rs797044462 |
openSNP | rs797044462 |
23andMe | rs797044462 |
SNPshot | rs797044462 |
SNPdbe | rs797044462 |
MSV3d | rs797044462 |
GWAS Ctlg | rs797044462 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044462(T;T) |
Alt | rs797044462(T;T) |
Reference | Rs797044462(C;C) |
Significance | Pathogenic |
Disease | Raine syndrome |
Variation | info |
Gene | FAM20C |
CLNDBN | Raine syndrome |
Reversed | 0 |
HGVS | NC_000007.13:g.288306C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023863.3, |