Have questions? Visit https://www.reddit.com/r/SNPedia

rs121918235

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918235(A;A)
Make rs121918235(A;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position137234634
GeneSLC34A3
is asnp
is mentioned by
dbSNPrs121918235
dbSNP (classic)rs121918235
ClinGenrs121918235
ebirs121918235
HLIrs121918235
Exacrs121918235
Gnomadrs121918235
Varsomers121918235
LitVarrs121918235
Maprs121918235
PheGenIrs121918235
Biobankrs121918235
1000 genomesrs121918235
hgdprs121918235
ensemblrs121918235
geneviewrs121918235
scholarrs121918235
googlers121918235
pharmgkbrs121918235
gwascentralrs121918235
openSNPrs121918235
23andMers121918235
SNPshotrs121918235
SNPdbers121918235
MSV3drs121918235
GWAS Ctlgrs121918235
Max Magnitude0
OMIM609826
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918235(A;A) rs121918235(T;T)
Alt rs121918235(A;A) rs121918235(T;T)
Reference Rs121918235(C;C)
Significance Pathogenic
Disease Autosomal recessive hypophosphatemic bone disease
Variation info
Gene SLC34A3
CLNDBN Autosomal recessive hypophosphatemic bone disease
Reversed 0
HGVS NC_000009.11:g.140129086C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001493.3,