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rs121913479

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913479(G;T)
Make rs121913479(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position1804362
GeneFGFR3
is asnp
is mentioned by
dbSNPrs121913479
ebirs121913479
HLIrs121913479
Exacrs121913479
Varsomers121913479
Maprs121913479
PheGenIrs121913479
hapmaprs121913479
1000 genomesrs121913479
hgdprs121913479
ensemblrs121913479
gopubmedrs121913479
geneviewrs121913479
scholarrs121913479
googlers121913479
pharmgkbrs121913479
gwascentralrs121913479
openSNPrs121913479
23andMers121913479
23andMe allrs121913479
SNP Nexus

SNPshotrs121913479
SNPdbers121913479
MSV3drs121913479
GWAS Ctlgrs121913479
Max Magnitude0
OMIM134934
Desc
Variant0033
Relatedalso
ClinVar
Risk rs121913479(T;T)
Alt rs121913479(T;T)
Reference rs121913479(G;G)
Significance Pathogenic
Disease Thanatophoric dysplasia type 1 Epidermal nevus
Variation info
Gene FGFR3
CLNDBN Thanatophoric dysplasia type 1 Epidermal nevus
Reversed 0
HGVS NC_000004.11:g.1806089G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017770.28, RCV000029208.5,