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rs587778801

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587778801(C;T)
Make rs587778801(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position1801518
GeneFGFR3
is asnp
is mentioned by
dbSNPrs587778801
dbSNP (classic)rs587778801
ClinGenrs587778801
ebirs587778801
HLIrs587778801
Exacrs587778801
Gnomadrs587778801
Varsomers587778801
LitVarrs587778801
Maprs587778801
PheGenIrs587778801
Biobankrs587778801
1000 genomesrs587778801
hgdprs587778801
ensemblrs587778801
geneviewrs587778801
scholarrs587778801
googlers587778801
pharmgkbrs587778801
gwascentralrs587778801
openSNPrs587778801
23andMers587778801
SNPshotrs587778801
SNPdbers587778801
MSV3drs587778801
GWAS Ctlgrs587778801
Max Magnitude0
ClinVar
Risk rs587778801(T;T)
Alt rs587778801(T;T)
Reference Rs587778801(C;C)
Significance Pathogenic
Disease Hypochondroplasia
Variation info
Gene FGFR3
CLNDBN Hypochondroplasia
Reversed 0
HGVS NC_000004.11:g.1803245C>T
CLNSRC
CLNACC RCV000056125.1,