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rs121909643

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909643(G;T)
Make rs121909643(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position38413918
GeneFGFR1
is asnp
is mentioned by
dbSNPrs121909643
ebirs121909643
HLIrs121909643
Exacrs121909643
Varsomers121909643
Maprs121909643
PheGenIrs121909643
hapmaprs121909643
1000 genomesrs121909643
hgdprs121909643
ensemblrs121909643
gopubmedrs121909643
geneviewrs121909643
scholarrs121909643
googlers121909643
pharmgkbrs121909643
gwascentralrs121909643
openSNPrs121909643
23andMers121909643
23andMe allrs121909643
SNP Nexus

SNPshotrs121909643
SNPdbers121909643
MSV3drs121909643
GWAS Ctlgrs121909643
Max Magnitude0
OMIM136350
Desc
Variant0023
Relatedalso
ClinVar
Risk rs121909643(T;T)
Alt rs121909643(T;T)
Reference rs121909643(G;G)
Significance Pathogenic
Disease Kallmann syndrome 2
Variation info
Gene FGFR1
CLNDBN Kallmann syndrome 2
Reversed 1
HGVS NC_000008.10:g.38271436C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000030938.26,