rs606231150
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs606231150(A;G) |
Make rs606231150(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 156791137 |
Gene | LMBR1 |
is a | snp |
is | mentioned by |
dbSNP | rs606231150 |
dbSNP (classic) | rs606231150 |
ClinGen | rs606231150 |
ebi | rs606231150 |
HLI | rs606231150 |
Exac | rs606231150 |
Gnomad | rs606231150 |
Varsome | rs606231150 |
LitVar | rs606231150 |
Map | rs606231150 |
PheGenI | rs606231150 |
Biobank | rs606231150 |
1000 genomes | rs606231150 |
hgdp | rs606231150 |
ensembl | rs606231150 |
geneview | rs606231150 |
scholar | rs606231150 |
rs606231150 | |
pharmgkb | rs606231150 |
gwascentral | rs606231150 |
openSNP | rs606231150 |
23andMe | rs606231150 |
SNPshot | rs606231150 |
SNPdbe | rs606231150 |
MSV3d | rs606231150 |
GWAS Ctlg | rs606231150 |
Max Magnitude | 0 |
[PMID 27569544] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
ClinVar | |
---|---|
Risk | rs606231150(G;G) |
Alt | rs606231150(G;G) |
Reference | Rs606231150(A;A) |
Significance | Pathogenic |
Disease | Polydactyly Triphalangeal thumb |
Variation | info |
Gene | LMBR1 |
CLNDBN | Polydactyly, preaxial II Triphalangeal thumb |
Reversed | 1 |
HGVS | NC_000007.13:g.156583831T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005181.3, RCV000005182.3, |