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rs104894344

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894344(C;T)
Make rs104894344(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position4370713
GeneFGF23
is asnp
is mentioned by
dbSNPrs104894344
ebirs104894344
HLIrs104894344
Exacrs104894344
Varsomers104894344
Maprs104894344
PheGenIrs104894344
hapmaprs104894344
1000 genomesrs104894344
hgdprs104894344
ensemblrs104894344
gopubmedrs104894344
geneviewrs104894344
scholarrs104894344
googlers104894344
pharmgkbrs104894344
gwascentralrs104894344
openSNPrs104894344
23andMers104894344
23andMe allrs104894344
SNP Nexus

SNPshotrs104894344
SNPdbers104894344
MSV3drs104894344
GWAS Ctlgrs104894344
Max Magnitude0
OMIM605380
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894344(T;T)
Alt rs104894344(T;T)
Reference rs104894344(C;C)
Significance Pathogenic
Disease Tumoral calcinosis
Variation info
Gene FGF23
CLNDBN Tumoral calcinosis, familial, hyperphosphatemic
Reversed 1
HGVS NC_000012.11:g.4479879G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005332.2,