Have questions? Visit https://www.reddit.com/r/SNPedia

rs121918500

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918500(A;G)
Make rs121918500(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position121520044
GeneFGFR2
is asnp
is mentioned by
dbSNPrs121918500
dbSNP (classic)rs121918500
ClinGenrs121918500
ebirs121918500
HLIrs121918500
Exacrs121918500
Gnomadrs121918500
Varsomers121918500
LitVarrs121918500
Maprs121918500
PheGenIrs121918500
Biobankrs121918500
1000 genomesrs121918500
hgdprs121918500
ensemblrs121918500
geneviewrs121918500
scholarrs121918500
googlers121918500
pharmgkbrs121918500
gwascentralrs121918500
openSNPrs121918500
23andMers121918500
SNPshotrs121918500
SNPdbers121918500
MSV3drs121918500
GWAS Ctlgrs121918500
Max Magnitude0
OMIM176943
Desc
Variant0020
Relatedalso
ClinVar
Risk rs121918500(G;G)
Alt rs121918500(G;G)
Reference Rs121918500(A;A)
Significance Pathogenic
Disease Crouzon syndrome
Variation info
Gene FGFR2
CLNDBN Crouzon syndrome
Reversed 1
HGVS NC_000010.10:g.123279558T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014204.24,