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rs587778769

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587778769(A;T)
Make rs587778769(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position1799488
GeneFGFR3
is asnp
is mentioned by
dbSNPrs587778769
dbSNP (classic)rs587778769
ClinGenrs587778769
ebirs587778769
HLIrs587778769
Exacrs587778769
Gnomadrs587778769
Varsomers587778769
LitVarrs587778769
Maprs587778769
PheGenIrs587778769
Biobankrs587778769
1000 genomesrs587778769
hgdprs587778769
ensemblrs587778769
geneviewrs587778769
scholarrs587778769
googlers587778769
pharmgkbrs587778769
gwascentralrs587778769
openSNPrs587778769
23andMers587778769
SNPshotrs587778769
SNPdbers587778769
MSV3drs587778769
GWAS Ctlgrs587778769
Max Magnitude0
ClinVar
Risk rs587778769(T;T)
Alt rs587778769(T;T)
Reference Rs587778769(A;A)
Significance Pathogenic
Disease Hypochondroplasia
Variation info
Gene FGFR3
CLNDBN Hypochondroplasia
Reversed 0
HGVS NC_000004.11:g.1801215A>T
CLNSRC
CLNACC RCV000055715.1,