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rs397515514

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515514(G;T)
Make rs397515514(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position1807261
GeneFGFR3
is asnp
is mentioned by
dbSNPrs397515514
ebirs397515514
HLIrs397515514
Exacrs397515514
Varsomers397515514
Maprs397515514
PheGenIrs397515514
hapmaprs397515514
1000 genomesrs397515514
hgdprs397515514
ensemblrs397515514
gopubmedrs397515514
geneviewrs397515514
scholarrs397515514
googlers397515514
pharmgkbrs397515514
gwascentralrs397515514
openSNPrs397515514
23andMers397515514
23andMe allrs397515514
SNP Nexus

SNPshotrs397515514
SNPdbers397515514
MSV3drs397515514
GWAS Ctlgrs397515514
Max Magnitude0
ClinVar
Risk rs397515514(T;T)
Alt rs397515514(T;T)
Reference rs397515514(G;G)
Significance Pathogenic
Disease Thanatophoric dysplasia type 1
Variation info
Gene FGFR3
CLNDBN Thanatophoric dysplasia type 1
Reversed 0
HGVS NC_000004.11:g.1808988G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000055764.1,