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rs398122946

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122946(G;T)
Make rs398122946(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position38414889
GeneFGFR1
is asnp
is mentioned by
dbSNPrs398122946
ebirs398122946
HLIrs398122946
Exacrs398122946
Varsomers398122946
Maprs398122946
PheGenIrs398122946
hapmaprs398122946
1000 genomesrs398122946
hgdprs398122946
ensemblrs398122946
gopubmedrs398122946
geneviewrs398122946
scholarrs398122946
googlers398122946
pharmgkbrs398122946
gwascentralrs398122946
openSNPrs398122946
23andMers398122946
23andMe allrs398122946
SNP Nexus

SNPshotrs398122946
SNPdbers398122946
MSV3drs398122946
GWAS Ctlgrs398122946
Max Magnitude0
ClinVar
Risk rs398122946(T;T)
Alt rs398122946(T;T)
Reference rs398122946(G;G)
Significance Pathogenic
Disease Hartsfield syndrome
Variation info
Gene FGFR1
CLNDBN Hartsfield syndrome
Reversed 1
HGVS NC_000008.10:g.38272407C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000056315.28,