rs119103234

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs119103234(C;C)

Make rs119103234(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

22250793

Gene

ANO5

is a	snp
is	mentioned by
dbSNP	rs119103234
dbSNP (classic)	rs119103234
ClinGen	rs119103234
ebi	rs119103234
HLI	rs119103234
Exac	rs119103234
Gnomad	rs119103234
Varsome	rs119103234
LitVar	rs119103234
Map	rs119103234
PheGenI	rs119103234
Biobank	rs119103234
1000 genomes	rs119103234
hgdp	rs119103234
ensembl	rs119103234
geneview	rs119103234
scholar	rs119103234
google	rs119103234
pharmgkb	rs119103234
gwascentral	rs119103234
openSNP	rs119103234
23andMe	rs119103234
SNPshot	rs119103234
SNPdbe	rs119103234
MSV3d	rs119103234
GWAS Ctlg	rs119103234

Max Magnitude

0

OMIM	608662
Desc
Variant	0001
Related	also

OMIM	608662
Desc
Variant	0002
Related	also

ClinVar
Risk	rs119103234(C;C) rs119103234(G;G)
Alt	rs119103234(C;C) rs119103234(G;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 UniProtKB (protein)
CLNACC	RCV000002244.3, RCV000128765.1, RCV000002245.3, RCV000128766.1,

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