rs199823175
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199823175(G;T) |
Make rs199823175(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 44942213 |
Gene | SIX3, SIX3-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs199823175 |
dbSNP (classic) | rs199823175 |
ClinGen | rs199823175 |
ebi | rs199823175 |
HLI | rs199823175 |
Exac | rs199823175 |
Gnomad | rs199823175 |
Varsome | rs199823175 |
LitVar | rs199823175 |
Map | rs199823175 |
PheGenI | rs199823175 |
Biobank | rs199823175 |
1000 genomes | rs199823175 |
hgdp | rs199823175 |
ensembl | rs199823175 |
geneview | rs199823175 |
scholar | rs199823175 |
rs199823175 | |
pharmgkb | rs199823175 |
gwascentral | rs199823175 |
openSNP | rs199823175 |
23andMe | rs199823175 |
SNPshot | rs199823175 |
SNPdbe | rs199823175 |
MSV3d | rs199823175 |
GWAS Ctlg | rs199823175 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199823175(T;T) |
Alt | rs199823175(T;T) |
Reference | Rs199823175(G;G) |
Significance | Pathogenic |
Disease | Holoprosencephaly 2 SCHIZENCEPHALY Single upper central incisor not specified not provided |
Variation | info |
Gene | SIX3 SIX3-AS1 |
CLNDBN | Holoprosencephaly 2 SCHIZENCEPHALY Single upper central incisor not specified not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.45169352G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023330.3, RCV000023331.3, RCV000171135.1, RCV000173372.1, RCV000414227.1, |