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rs121909633

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909633(C;C)
Make rs121909633(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position38424546
GeneFGFR1
is asnp
is mentioned by
dbSNPrs121909633
ebirs121909633
HLIrs121909633
Exacrs121909633
Varsomers121909633
Maprs121909633
PheGenIrs121909633
hapmaprs121909633
1000 genomesrs121909633
hgdprs121909633
ensemblrs121909633
gopubmedrs121909633
geneviewrs121909633
scholarrs121909633
googlers121909633
pharmgkbrs121909633
gwascentralrs121909633
openSNPrs121909633
23andMers121909633
23andMe allrs121909633
SNP Nexus

SNPshotrs121909633
SNPdbers121909633
MSV3drs121909633
GWAS Ctlgrs121909633
Max Magnitude0
OMIM136350
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121909633(C;C)
Alt rs121909633(C;C)
Reference rs121909633(T;T)
Significance Pathogenic
Disease Trigonocephaly 1
Variation info
Gene FGFR1
CLNDBN Trigonocephaly 1
Reversed 1
HGVS NC_000008.10:g.38282064A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017681.28,