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rs121908249

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908249(A;C)
Make rs121908249(C;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position131890435
GeneENPP1
is asnp
is mentioned by
dbSNPrs121908249
ebirs121908249
HLIrs121908249
Exacrs121908249
Varsomers121908249
Maprs121908249
PheGenIrs121908249
hapmaprs121908249
1000 genomesrs121908249
hgdprs121908249
ensemblrs121908249
gopubmedrs121908249
geneviewrs121908249
scholarrs121908249
googlers121908249
pharmgkbrs121908249
gwascentralrs121908249
openSNPrs121908249
23andMers121908249
23andMe allrs121908249
SNP Nexus

SNPshotrs121908249
SNPdbers121908249
MSV3drs121908249
GWAS Ctlgrs121908249
Max Magnitude0
OMIM173335
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121908249(C,G;C,G)
Alt rs121908249(C,G;C,G)
Reference rs121908249(A;A)
Significance Pathogenic
Disease Hypophosphatemic rickets
Variation info
Gene ENPP1
CLNDBN Hypophosphatemic rickets, autosomal recessive, 2
Reversed 0
HGVS NC_000006.11:g.132211575A>C
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000014566.28,


[PMID 20137772OA-icon.png] Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene.