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rs28939719

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28939719(C;C)
Make rs28939719(C;T)
ReferenceGRCh37 37.1/131
Chromosome19
Position919563
GeneKISS1R
is asnp
is mentioned by
dbSNPrs28939719
ClinGenrs28939719
ebirs28939719
HLIrs28939719
Exacrs28939719
Varsomers28939719
Maprs28939719
PheGenIrs28939719
hapmaprs28939719
1000 genomesrs28939719
hgdprs28939719
ensemblrs28939719
gopubmedrs28939719
geneviewrs28939719
scholarrs28939719
googlers28939719
pharmgkbrs28939719
gwascentralrs28939719
openSNPrs28939719
23andMers28939719
23andMe allrs28939719
SNP Nexus

SNPshotrs28939719
SNPdbers28939719
MSV3drs28939719
GWAS Ctlgrs28939719
Max Magnitude0
OMIM604161
DescHYPOGONADOTROPIC HYPOGONADISM
Variant0001
Relatedalso


ClinVar
Risk rs28939719(C;C)
Alt rs28939719(C;C)
Reference Rs28939719(T;T)
Significance Pathogenic
Disease Hypogonadotropic hypogonadism 8 without anosmia
Variation info
Gene KISS1R
CLNDBN Hypogonadotropic hypogonadism 8 without anosmia
Reversed 0
HGVS NC_000019.9:g.919563T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000030878.3,