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rs869320694

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869320694(A;G)
Make rs869320694(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome8
Position38414790
GeneFGFR1
is asnp
is mentioned by
dbSNPrs869320694
ebirs869320694
HLIrs869320694
Exacrs869320694
Varsomers869320694
Maprs869320694
PheGenIrs869320694
hapmaprs869320694
1000 genomesrs869320694
hgdprs869320694
ensemblrs869320694
gopubmedrs869320694
geneviewrs869320694
scholarrs869320694
googlers869320694
pharmgkbrs869320694
gwascentralrs869320694
openSNPrs869320694
23andMers869320694
23andMe allrs869320694
SNP Nexus

SNPshotrs869320694
SNPdbers869320694
MSV3drs869320694
GWAS Ctlgrs869320694
Max Magnitude0
ClinVar
Risk rs869320694(G;G)
Alt rs869320694(G;G)
Reference rs869320694(A;A)
Significance Pathogenic
Disease Encephalocraniocutaneous lipomatosis
Variation info
Gene FGFR1
CLNDBN Encephalocraniocutaneous lipomatosis
Reversed 1
HGVS NC_000008.10:g.38272308T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000210479.2,