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rs121909627

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909627(C;G)
Make rs121909627(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position38424690
GeneFGFR1
is asnp
is mentioned by
dbSNPrs121909627
ebirs121909627
HLIrs121909627
Exacrs121909627
Varsomers121909627
Maprs121909627
PheGenIrs121909627
hapmaprs121909627
1000 genomesrs121909627
hgdprs121909627
ensemblrs121909627
gopubmedrs121909627
geneviewrs121909627
scholarrs121909627
googlers121909627
pharmgkbrs121909627
gwascentralrs121909627
openSNPrs121909627
23andMers121909627
23andMe allrs121909627
SNP Nexus

SNPshotrs121909627
SNPdbers121909627
MSV3drs121909627
GWAS Ctlgrs121909627
Max Magnitude0
OMIM136350
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909627(G;G)
Alt rs121909627(G;G)
Reference rs121909627(C;C)
Significance Pathogenic
Disease Pfeiffer syndrome Jackson-Weiss syndrome
Variation info
Gene FGFR1
CLNDBN Pfeiffer syndrome Jackson-Weiss syndrome
Reversed 1
HGVS NC_000008.10:g.38282208G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017669.28, RCV000017670.28,