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rs121913483

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913483(C;G)
Make rs121913483(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position1801841
GeneFGFR3
is asnp
is mentioned by
dbSNPrs121913483
ebirs121913483
HLIrs121913483
Exacrs121913483
Varsomers121913483
Maprs121913483
PheGenIrs121913483
hapmaprs121913483
1000 genomesrs121913483
hgdprs121913483
ensemblrs121913483
gopubmedrs121913483
geneviewrs121913483
scholarrs121913483
googlers121913483
pharmgkbrs121913483
gwascentralrs121913483
openSNPrs121913483
23andMers121913483
23andMe allrs121913483
SNP Nexus

SNPshotrs121913483
SNPdbers121913483
MSV3drs121913483
GWAS Ctlgrs121913483
Max Magnitude0
OMIM134934
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121913483(G,T;G,T)
Alt rs121913483(G,T;G,T)
Reference rs121913483(C;C)
Significance Pathogenic
Disease Thanatophoric dysplasia type 1 Carcinoma of cervix Malignant tumor of urinary bladder Keratosis
Variation info
Gene FGFR3
CLNDBN Thanatophoric dysplasia type 1 Carcinoma of cervix Malignant tumor of urinary bladder Keratosis, seborrheic
Reversed 0
HGVS NC_000004.11:g.1803568C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017742.28, RCV000017743.5, RCV000017744.5, RCV000017745.5,