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rs121913116

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913116(C;T)
Make rs121913116(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position1799395
GeneFGFR3
is asnp
is mentioned by
dbSNPrs121913116
ebirs121913116
HLIrs121913116
Exacrs121913116
Varsomers121913116
Maprs121913116
PheGenIrs121913116
hapmaprs121913116
1000 genomesrs121913116
hgdprs121913116
ensemblrs121913116
gopubmedrs121913116
geneviewrs121913116
scholarrs121913116
googlers121913116
pharmgkbrs121913116
gwascentralrs121913116
openSNPrs121913116
23andMers121913116
23andMe allrs121913116
SNP Nexus

SNPshotrs121913116
SNPdbers121913116
MSV3drs121913116
GWAS Ctlgrs121913116
Max Magnitude0
OMIM134934
Desc
Variant0032
Relatedalso
ClinVar
Risk rs121913116(T;T)
Alt rs121913116(T;T)
Reference rs121913116(C;C)
Significance Pathogenic
Disease Hypochondroplasia
Variation info
Gene FGFR3
CLNDBN Hypochondroplasia
Reversed 0
HGVS NC_000004.11:g.1801122C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017769.28,