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rs779707422

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs779707422(A;A)
Make rs779707422(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome8
Position38417331
GeneFGFR1
is asnp
is mentioned by
dbSNPrs779707422
dbSNP (classic)rs779707422
ClinGenrs779707422
ebirs779707422
HLIrs779707422
Exacrs779707422
Gnomadrs779707422
Varsomers779707422
LitVarrs779707422
Maprs779707422
PheGenIrs779707422
Biobankrs779707422
1000 genomesrs779707422
hgdprs779707422
ensemblrs779707422
geneviewrs779707422
scholarrs779707422
googlers779707422
pharmgkbrs779707422
gwascentralrs779707422
openSNPrs779707422
23andMers779707422
SNPshotrs779707422
SNPdbers779707422
MSV3drs779707422
GWAS Ctlgrs779707422
Max Magnitude0
ClinVar
Risk rs779707422(A;A) rs779707422(T;T)
Alt rs779707422(A;A) rs779707422(T;T)
Reference Rs779707422(G;G)
Significance Pathogenic
Disease Encephalocraniocutaneous lipomatosis Adenocarcinoma of stomach Neuroblastoma Brainstem glioma Medulloblastoma Astrocytoma Rosette-forming glioneuronal tumor
Variation info
Gene FGFR1
CLNDBN Encephalocraniocutaneous lipomatosis Adenocarcinoma of stomach Neuroblastoma Brainstem glioma Medulloblastoma Astrocytoma Rosette-forming glioneuronal tumor
Reversed 0
HGVS NC_000008.10:g.38274849G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000210485.2, RCV000422315.1, RCV000428878.1, RCV000429528.1, RCV000439566.1, RCV000440238.1, RCV000487433.1,