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rs121913102

From SNPedia

Merged intors121913101
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121913102(A;A)
Make rs121913102(A;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position1807260
GeneFGFR3
is asnp
is mentioned by
dbSNPrs121913102
dbSNP (classic)rs121913102
ClinGenrs121913102
ebirs121913102
HLIrs121913102
Exacrs121913102
Gnomadrs121913102
Varsomers121913102
LitVarrs121913102
Maprs121913102
PheGenIrs121913102
Biobankrs121913102
1000 genomesrs121913102
hgdprs121913102
ensemblrs121913102
geneviewrs121913102
scholarrs121913102
googlers121913102
pharmgkbrs121913102
gwascentralrs121913102
openSNPrs121913102
23andMers121913102
SNPshotrs121913102
SNPdbers121913102
MSV3drs121913102
GWAS Ctlgrs121913102
StatusMerged into rs121913101
Max Magnitude0
ClinVar
Risk rs121913102(A;A)
Alt rs121913102(A;A)
Reference Rs121913102(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
CLNSRC OMIM Allelic Variant
CLNACC SCV000038016.1,