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rs587778775

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587778775(G;T)
Make rs587778775(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position1803785
GeneFGFR3
is asnp
is mentioned by
dbSNPrs587778775
dbSNP (classic)rs587778775
ClinGenrs587778775
ebirs587778775
HLIrs587778775
Exacrs587778775
Gnomadrs587778775
Varsomers587778775
LitVarrs587778775
Maprs587778775
PheGenIrs587778775
Biobankrs587778775
1000 genomesrs587778775
hgdprs587778775
ensemblrs587778775
geneviewrs587778775
scholarrs587778775
googlers587778775
pharmgkbrs587778775
gwascentralrs587778775
openSNPrs587778775
23andMers587778775
SNPshotrs587778775
SNPdbers587778775
MSV3drs587778775
GWAS Ctlgrs587778775
Max Magnitude0
ClinVar
Risk rs587778775(T;T)
Alt rs587778775(T;T)
Reference Rs587778775(G;G)
Significance Pathogenic
Disease Hypochondroplasia
Variation info
Gene FGFR3
CLNDBN Hypochondroplasia
Reversed 0
HGVS NC_000004.11:g.1805512G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000056066.7,