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rs587778811

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587778811(G;T)
Make rs587778811(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position1801896
GeneFGFR3
is asnp
is mentioned by
dbSNPrs587778811
dbSNP (classic)rs587778811
ClinGenrs587778811
ebirs587778811
HLIrs587778811
Exacrs587778811
Gnomadrs587778811
Varsomers587778811
LitVarrs587778811
Maprs587778811
PheGenIrs587778811
Biobankrs587778811
1000 genomesrs587778811
hgdprs587778811
ensemblrs587778811
geneviewrs587778811
scholarrs587778811
googlers587778811
pharmgkbrs587778811
gwascentralrs587778811
openSNPrs587778811
23andMers587778811
SNPshotrs587778811
SNPdbers587778811
MSV3drs587778811
GWAS Ctlgrs587778811
Max Magnitude0
ClinVar
Risk rs587778811(T;T)
Alt rs587778811(T;T)
Reference Rs587778811(G;G)
Significance Pathogenic
Disease Hypochondroplasia
Variation info
Gene FGFR3
CLNDBN Hypochondroplasia
Reversed 0
HGVS NC_000004.11:g.1803623G>T
CLNSRC
CLNACC RCV000056147.1,