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rs727505370

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs727505370(C;C)
Make rs727505370(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position38414840
GeneFGFR1
is asnp
is mentioned by
dbSNPrs727505370
dbSNP (classic)rs727505370
ClinGenrs727505370
ebirs727505370
HLIrs727505370
Exacrs727505370
Gnomadrs727505370
Varsomers727505370
LitVarrs727505370
Maprs727505370
PheGenIrs727505370
Biobankrs727505370
1000 genomesrs727505370
hgdprs727505370
ensemblrs727505370
geneviewrs727505370
scholarrs727505370
googlers727505370
pharmgkbrs727505370
gwascentralrs727505370
openSNPrs727505370
23andMers727505370
SNPshotrs727505370
SNPdbers727505370
MSV3drs727505370
GWAS Ctlgrs727505370
Max Magnitude0
ClinVar
Risk rs727505370(C;C)
Alt rs727505370(C;C)
Reference Rs727505370(T;T)
Significance Probable-Pathogenic
Disease Hypogonadotrophic hypogonadism Delayed puberty
Variation info
Gene FGFR1
CLNDBN Hypogonadotrophic hypogonadism Delayed puberty
Reversed 1
HGVS NC_000008.10:g.38272358A>G
CLNSRC
CLNACC RCV000156955.1, RCV000156956.1,