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rs587778816

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587778816(C;G)
Make rs587778816(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position1803731
GeneFGFR3
is asnp
is mentioned by
dbSNPrs587778816
dbSNP (classic)rs587778816
ClinGenrs587778816
ebirs587778816
HLIrs587778816
Exacrs587778816
Gnomadrs587778816
Varsomers587778816
LitVarrs587778816
Maprs587778816
PheGenIrs587778816
Biobankrs587778816
1000 genomesrs587778816
hgdprs587778816
ensemblrs587778816
geneviewrs587778816
scholarrs587778816
googlers587778816
pharmgkbrs587778816
gwascentralrs587778816
openSNPrs587778816
23andMers587778816
SNPshotrs587778816
SNPdbers587778816
MSV3drs587778816
GWAS Ctlgrs587778816
Max Magnitude0
ClinVar
Risk rs587778816(G;G)
Alt rs587778816(G;G)
Reference Rs587778816(C;C)
Significance Pathogenic
Disease Hypochondroplasia
Variation info
Gene FGFR3
CLNDBN Hypochondroplasia
Reversed 0
HGVS NC_000004.11:g.1805458C>G
CLNSRC
CLNACC RCV000056161.1,