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rs142439525

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs142439525(C;T)
Make rs142439525(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome5
Position142314268
GeneSPRY4
is asnp
is mentioned by
dbSNPrs142439525
dbSNP (classic)rs142439525
ClinGenrs142439525
ebirs142439525
HLIrs142439525
Exacrs142439525
Gnomadrs142439525
Varsomers142439525
LitVarrs142439525
Maprs142439525
PheGenIrs142439525
Biobankrs142439525
1000 genomesrs142439525
hgdprs142439525
ensemblrs142439525
geneviewrs142439525
scholarrs142439525
googlers142439525
pharmgkbrs142439525
gwascentralrs142439525
openSNPrs142439525
23andMers142439525
SNPshotrs142439525
SNPdbers142439525
MSV3drs142439525
GWAS Ctlgrs142439525
Max Magnitude0
ClinVar
Risk rs142439525(T;T)
Alt rs142439525(T;T)
Reference Rs142439525(C;C)
Significance Pathogenic
Disease Hypogonadotropic hypogonadism 17 with or without anosmia
Variation info
Gene SPRY4
CLNDBN Hypogonadotropic hypogonadism 17 with or without anosmia
Reversed 0
HGVS NC_000005.9:g.141693833C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000043615.3,