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rs587778817

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587778817(A;T)
Make rs587778817(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position1803744
GeneFGFR3
is asnp
is mentioned by
dbSNPrs587778817
dbSNP (classic)rs587778817
ClinGenrs587778817
ebirs587778817
HLIrs587778817
Exacrs587778817
Gnomadrs587778817
Varsomers587778817
LitVarrs587778817
Maprs587778817
PheGenIrs587778817
Biobankrs587778817
1000 genomesrs587778817
hgdprs587778817
ensemblrs587778817
geneviewrs587778817
scholarrs587778817
googlers587778817
pharmgkbrs587778817
gwascentralrs587778817
openSNPrs587778817
23andMers587778817
SNPshotrs587778817
SNPdbers587778817
MSV3drs587778817
GWAS Ctlgrs587778817
Max Magnitude0
ClinVar
Risk rs587778817(T;T)
Alt rs587778817(T;T)
Reference Rs587778817(A;A)
Significance Pathogenic
Disease Hypochondroplasia
Variation info
Gene FGFR3
CLNDBN Hypochondroplasia
Reversed 0
HGVS NC_000004.11:g.1805471A>T
CLNSRC
CLNACC RCV000056162.1,