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rs587778776

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587778776(A;A)
Make rs587778776(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position1804396
GeneFGFR3
is asnp
is mentioned by
dbSNPrs587778776
dbSNP (classic)rs587778776
ClinGenrs587778776
ebirs587778776
HLIrs587778776
Exacrs587778776
Gnomadrs587778776
Varsomers587778776
LitVarrs587778776
Maprs587778776
PheGenIrs587778776
Biobankrs587778776
1000 genomesrs587778776
hgdprs587778776
ensemblrs587778776
geneviewrs587778776
scholarrs587778776
googlers587778776
pharmgkbrs587778776
gwascentralrs587778776
openSNPrs587778776
23andMers587778776
SNPshotrs587778776
SNPdbers587778776
MSV3drs587778776
GWAS Ctlgrs587778776
Max Magnitude0
ClinVar
Risk rs587778776(A;A)
Alt rs587778776(A;A)
Reference Rs587778776(T;T)
Significance Pathogenic
Disease Hypochondroplasia
Variation info
Gene FGFR3
CLNDBN Hypochondroplasia
Reversed 0
HGVS NC_000004.11:g.1806123T>A
CLNSRC
CLNACC RCV000056069.1,