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rs515726224

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs515726224(C;T)
Make rs515726224(T;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position38417962
GeneFGFR1
is asnp
is mentioned by
dbSNPrs515726224
dbSNP (classic)rs515726224
ClinGenrs515726224
ebirs515726224
HLIrs515726224
Exacrs515726224
Gnomadrs515726224
Varsomers515726224
LitVarrs515726224
Maprs515726224
PheGenIrs515726224
Biobankrs515726224
1000 genomesrs515726224
hgdprs515726224
ensemblrs515726224
geneviewrs515726224
scholarrs515726224
googlers515726224
pharmgkbrs515726224
gwascentralrs515726224
openSNPrs515726224
23andMers515726224
SNPshotrs515726224
SNPdbers515726224
MSV3drs515726224
GWAS Ctlgrs515726224
Max Magnitude0
ClinVar
Risk rs515726224(T;T)
Alt rs515726224(T;T)
Reference Rs515726224(C;C)
Significance Pathogenic
Disease Kallmann syndrome 2
Variation info
Gene FGFR1
CLNDBN Kallmann syndrome 2
Reversed 0
HGVS NC_000008.10:g.38275480C>T
CLNSRC ClinVar Pin India
CLNACC RCV000119059.1,