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rs515726222

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs515726222(C;T)
Make rs515726222(T;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position38428351
GeneFGFR1
is asnp
is mentioned by
dbSNPrs515726222
dbSNP (classic)rs515726222
ClinGenrs515726222
ebirs515726222
HLIrs515726222
Exacrs515726222
Gnomadrs515726222
Varsomers515726222
LitVarrs515726222
Maprs515726222
PheGenIrs515726222
Biobankrs515726222
1000 genomesrs515726222
hgdprs515726222
ensemblrs515726222
geneviewrs515726222
scholarrs515726222
googlers515726222
pharmgkbrs515726222
gwascentralrs515726222
openSNPrs515726222
23andMers515726222
SNPshotrs515726222
SNPdbers515726222
MSV3drs515726222
GWAS Ctlgrs515726222
Max Magnitude0
ClinVar
Risk rs515726222(T;T)
Alt rs515726222(T;T)
Reference Rs515726222(C;C)
Significance Pathogenic
Disease Kallmann syndrome 2
Variation info
Gene FGFR1
CLNDBN Kallmann syndrome 2
Reversed 0
HGVS NC_000008.10:g.38285869C>T
CLNSRC ClinVar Pin India
CLNACC RCV000119057.1,