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rs121909631

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121909631(A;G)
Make rs121909631(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position38419696
GeneFGFR1
is asnp
is mentioned by
dbSNPrs121909631
dbSNP (classic)rs121909631
ClinGenrs121909631
ebirs121909631
HLIrs121909631
Exacrs121909631
Gnomadrs121909631
Varsomers121909631
LitVarrs121909631
Maprs121909631
PheGenIrs121909631
Biobankrs121909631
1000 genomesrs121909631
hgdprs121909631
ensemblrs121909631
geneviewrs121909631
scholarrs121909631
googlers121909631
pharmgkbrs121909631
gwascentralrs121909631
openSNPrs121909631
23andMers121909631
SNPshotrs121909631
SNPdbers121909631
MSV3drs121909631
GWAS Ctlgrs121909631
Max Magnitude0
OMIM136350
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121909631(G;G)
Alt rs121909631(G;G)
Reference Rs121909631(A;A)
Significance Pathogenic
Disease Osteoglophonic dysplasia
Variation info
Gene FGFR1
CLNDBN Osteoglophonic dysplasia
Reversed 1
HGVS NC_000008.10:g.38277214T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017679.28,