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rs863223331

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863223331(C;T)
Make rs863223331(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position38427977
GeneFGFR1
is asnp
is mentioned by
dbSNPrs863223331
dbSNP (classic)rs863223331
ClinGenrs863223331
ebirs863223331
HLIrs863223331
Exacrs863223331
Gnomadrs863223331
Varsomers863223331
LitVarrs863223331
Maprs863223331
PheGenIrs863223331
Biobankrs863223331
1000 genomesrs863223331
hgdprs863223331
ensemblrs863223331
geneviewrs863223331
scholarrs863223331
googlers863223331
pharmgkbrs863223331
gwascentralrs863223331
openSNPrs863223331
23andMers863223331
SNPshotrs863223331
SNPdbers863223331
MSV3drs863223331
GWAS Ctlgrs863223331
Max Magnitude0
ClinVar
Risk rs863223331(T;T)
Alt rs863223331(T;T)
Reference Rs863223331(C;C)
Significance Pathogenic
Disease Kallmann syndrome 2
Variation info
Gene FGFR1
CLNDBN Kallmann syndrome 2
Reversed 1
HGVS NC_000008.10:g.38285495G>A
CLNSRC
CLNACC RCV000200962.1,