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rs398122945

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122945(A;A)
Make rs398122945(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position38414164
GeneFGFR1
is asnp
is mentioned by
dbSNPrs398122945
dbSNP (old)rs398122945
ClinGenrs398122945
ebirs398122945
HLIrs398122945
Exacrs398122945
Gnomadrs398122945
Varsomers398122945
Maprs398122945
PheGenIrs398122945
Biobankrs398122945
1000 genomesrs398122945
hgdprs398122945
ensemblrs398122945
gopubmedrs398122945
geneviewrs398122945
scholarrs398122945
googlers398122945
pharmgkbrs398122945
gwascentralrs398122945
openSNPrs398122945
23andMers398122945
23andMe allrs398122945
SNP Nexus

SNPshotrs398122945
SNPdbers398122945
MSV3drs398122945
GWAS Ctlgrs398122945
Max Magnitude0
ClinVar
Risk rs398122945(A;A)
Alt rs398122945(A;A)
Reference Rs398122945(G;G)
Significance Pathogenic
Disease Hartsfield syndrome
Variation info
Gene FGFR1
CLNDBN Hartsfield syndrome
Reversed 1
HGVS NC_000008.10:g.38271682C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000056313.28,