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rs121913101

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121913101(G;G)
Make rs121913101(G;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position1807260
GeneFGFR3
is asnp
is mentioned by
dbSNPrs121913101
ebirs121913101
HLIrs121913101
Exacrs121913101
Varsomers121913101
Maprs121913101
PheGenIrs121913101
hapmaprs121913101
1000 genomesrs121913101
hgdprs121913101
ensemblrs121913101
gopubmedrs121913101
geneviewrs121913101
scholarrs121913101
googlers121913101
pharmgkbrs121913101
gwascentralrs121913101
openSNPrs121913101
23andMers121913101
23andMe allrs121913101
SNP Nexus

SNPshotrs121913101
SNPdbers121913101
MSV3drs121913101
GWAS Ctlgrs121913101
Merged fromRs121913102
Max Magnitude0
ClinVar
Risk rs121913101(A,C,G;A,C,G)
Alt rs121913101(A,C,G;A,C,G)
Reference rs121913101(T;T)
Significance Pathogenic
Disease Thanatophoric dysplasia type 1
Variation info
Gene FGFR3
CLNDBN Thanatophoric dysplasia type 1
Reversed 0
HGVS NC_000004.11:g.1808987T>A; NC_000004.11:g.1808987T>C; NC_000004.11:g.1808987T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017738.28, RCV000055763.1, RCV000017737.28,