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rs121913484

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913484(A;T)
Make rs121913484(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position1804365
GeneFGFR3
is asnp
is mentioned by
dbSNPrs121913484
ebirs121913484
HLIrs121913484
Exacrs121913484
Varsomers121913484
Maprs121913484
PheGenIrs121913484
hapmaprs121913484
1000 genomesrs121913484
hgdprs121913484
ensemblrs121913484
gopubmedrs121913484
geneviewrs121913484
scholarrs121913484
googlers121913484
pharmgkbrs121913484
gwascentralrs121913484
openSNPrs121913484
23andMers121913484
23andMe allrs121913484
SNP Nexus

SNPshotrs121913484
SNPdbers121913484
MSV3drs121913484
GWAS Ctlgrs121913484
Max Magnitude0
OMIM134934
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121913484(T;T)
Alt rs121913484(T;T)
Reference rs121913484(A;A)
Significance Pathogenic
Disease Thanatophoric dysplasia type 1
Variation info
Gene FGFR3
CLNDBN Thanatophoric dysplasia type 1
Reversed 0
HGVS NC_000004.11:g.1806092A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017736.28,