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rs121909636

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909636(C;T)
Make rs121909636(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position38414569
GeneFGFR1
is asnp
is mentioned by
dbSNPrs121909636
ebirs121909636
HLIrs121909636
Exacrs121909636
Varsomers121909636
Maprs121909636
PheGenIrs121909636
hapmaprs121909636
1000 genomesrs121909636
hgdprs121909636
ensemblrs121909636
gopubmedrs121909636
geneviewrs121909636
scholarrs121909636
googlers121909636
pharmgkbrs121909636
gwascentralrs121909636
openSNPrs121909636
23andMers121909636
23andMe allrs121909636
SNP Nexus

SNPshotrs121909636
SNPdbers121909636
MSV3drs121909636
GWAS Ctlgrs121909636
Max Magnitude0
OMIM136350
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121909636(T;T)
Alt rs121909636(T;T)
Reference rs121909636(C;C)
Significance Pathogenic
Disease Kallmann syndrome 2 Delayed puberty
Variation info
Gene FGFR1
CLNDBN Kallmann syndrome 2 Delayed puberty
Reversed 1
HGVS NC_000008.10:g.38272087G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000030931.23, RCV000156950.1,