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rs121913482

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913482(C;T)
Make rs121913482(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position1801837
GeneFGFR3
is asnp
is mentioned by
dbSNPrs121913482
ebirs121913482
HLIrs121913482
Exacrs121913482
Varsomers121913482
Maprs121913482
PheGenIrs121913482
hapmaprs121913482
1000 genomesrs121913482
hgdprs121913482
ensemblrs121913482
gopubmedrs121913482
geneviewrs121913482
scholarrs121913482
googlers121913482
pharmgkbrs121913482
gwascentralrs121913482
openSNPrs121913482
23andMers121913482
23andMe allrs121913482
SNP Nexus

SNPshotrs121913482
SNPdbers121913482
MSV3drs121913482
GWAS Ctlgrs121913482
Max Magnitude0
OMIM134934
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121913482(T;T)
Alt rs121913482(T;T)
Reference rs121913482(C;C)
Significance Pathogenic
Disease Thanatophoric dysplasia type 1 Multiple myeloma Skeletal dysplasia with acanthosis nigricans Epidermal nevus Keratosis
Variation info
Gene FGFR3
CLNDBN Thanatophoric dysplasia type 1 Multiple myeloma Skeletal dysplasia with acanthosis nigricans Epidermal nevus Keratosis, seborrheic
Reversed 0
HGVS NC_000004.11:g.1803564C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017731.28, RCV000017732.5, RCV000017733.28, RCV000017734.5, RCV000017735.5,