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rs121913485

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913485(A;G)
Make rs121913485(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position1804372
GeneFGFR3
is asnp
is mentioned by
dbSNPrs121913485
ebirs121913485
HLIrs121913485
Exacrs121913485
Varsomers121913485
Maprs121913485
PheGenIrs121913485
hapmaprs121913485
1000 genomesrs121913485
hgdprs121913485
ensemblrs121913485
gopubmedrs121913485
geneviewrs121913485
scholarrs121913485
googlers121913485
pharmgkbrs121913485
gwascentralrs121913485
openSNPrs121913485
23andMers121913485
23andMe allrs121913485
SNP Nexus

SNPshotrs121913485
SNPdbers121913485
MSV3drs121913485
GWAS Ctlgrs121913485
Max Magnitude0
OMIM134934
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121913485(G;G)
Alt rs121913485(G;G)
Reference rs121913485(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.1806099A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017751.24,