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rs121913103

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913103(A;T)
Make rs121913103(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position1807262
GeneFGFR3
is asnp
is mentioned by
dbSNPrs121913103
ebirs121913103
HLIrs121913103
Exacrs121913103
Varsomers121913103
Maprs121913103
PheGenIrs121913103
hapmaprs121913103
1000 genomesrs121913103
hgdprs121913103
ensemblrs121913103
gopubmedrs121913103
geneviewrs121913103
scholarrs121913103
googlers121913103
pharmgkbrs121913103
gwascentralrs121913103
openSNPrs121913103
23andMers121913103
23andMe allrs121913103
SNP Nexus

SNPshotrs121913103
SNPdbers121913103
MSV3drs121913103
GWAS Ctlgrs121913103
Max Magnitude0
ClinVar
Risk rs121913103(C,G,T;C,G,T)
Alt rs121913103(C,G,T;C,G,T)
Reference rs121913103(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.1808989A>C; NC_000004.11:g.1808989A>G; NC_000004.11:g.1808989A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000055765.1, RCV000055766.1, RCV000017739.24,