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rs119103234

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs119103234(C;C)
Make rs119103234(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position22250793
GeneANO5
is asnp
is mentioned by
dbSNPrs119103234
ebirs119103234
HLIrs119103234
Exacrs119103234
Varsomers119103234
Maprs119103234
PheGenIrs119103234
hapmaprs119103234
1000 genomesrs119103234
hgdprs119103234
ensemblrs119103234
gopubmedrs119103234
geneviewrs119103234
scholarrs119103234
googlers119103234
pharmgkbrs119103234
gwascentralrs119103234
openSNPrs119103234
23andMers119103234
23andMe allrs119103234
SNP Nexus

SNPshotrs119103234
SNPdbers119103234
MSV3drs119103234
GWAS Ctlgrs119103234
Max Magnitude0
OMIM608662
Desc
Variant0001
Relatedalso
OMIM608662
Desc
Variant0002
Relatedalso
ClinVar
Risk rs119103234(C,G;C,G)
Alt rs119103234(C,G;C,G)
Reference rs119103234(T;T)
Significance Pathogenic
Disease Gnathodiaphyseal dysplasia not provided
Variation info
Gene ANO5
CLNDBN Gnathodiaphyseal dysplasia not provided
Reversed 0
HGVS NC_000011.9:g.22272339T>C; NC_000011.9:g.22272339T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002244.3, RCV000128765.1, RCV000002245.3, RCV000128766.1,


[PMID 15124103OA-icon.png] The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD).