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rs121913112

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913112(A;A)
Make rs121913112(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position1805561
GeneFGFR3
is asnp
is mentioned by
dbSNPrs121913112
dbSNP (classic)rs121913112
ClinGenrs121913112
ebirs121913112
HLIrs121913112
Exacrs121913112
Gnomadrs121913112
Varsomers121913112
LitVarrs121913112
Maprs121913112
PheGenIrs121913112
Biobankrs121913112
1000 genomesrs121913112
hgdprs121913112
ensemblrs121913112
geneviewrs121913112
scholarrs121913112
googlers121913112
pharmgkbrs121913112
gwascentralrs121913112
openSNPrs121913112
23andMers121913112
SNPshotrs121913112
SNPdbers121913112
MSV3drs121913112
GWAS Ctlgrs121913112
Max Magnitude0
OMIM134934
Desc
Variant0028
Relatedalso
ClinVar
Risk rs121913112(A;A)
Alt rs121913112(A;A)
Reference Rs121913112(G;G)
Significance Pathogenic
Disease Levy-Hollister syndrome
Variation info
Gene FGFR3
CLNDBN Levy-Hollister syndrome
Reversed 0
HGVS NC_000004.11:g.1807288G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017764.28,