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rs121913115

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913115(A;G)
Make rs121913115(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position1801928
GeneFGFR3
is asnp
is mentioned by
dbSNPrs121913115
ebirs121913115
HLIrs121913115
Exacrs121913115
Varsomers121913115
Maprs121913115
PheGenIrs121913115
hapmaprs121913115
1000 genomesrs121913115
hgdprs121913115
ensemblrs121913115
gopubmedrs121913115
geneviewrs121913115
scholarrs121913115
googlers121913115
pharmgkbrs121913115
gwascentralrs121913115
openSNPrs121913115
23andMers121913115
23andMe allrs121913115
SNP Nexus

SNPshotrs121913115
SNPdbers121913115
MSV3drs121913115
GWAS Ctlgrs121913115
Max Magnitude0
OMIM134934
Desc
Variant0031
Relatedalso
ClinVar
Risk rs121913115(G;G)
Alt rs121913115(G;G)
Reference rs121913115(A;A)
Significance Pathogenic
Disease Hypochondroplasia
Variation info
Gene FGFR3
CLNDBN Hypochondroplasia
Reversed 0
HGVS NC_000004.11:g.1803655A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017768.28,