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rs104894703

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894703(C;C)
Make rs104894703(C;T)
ReferenceGRCh37 37.1/132
Chromosome19
Position918604
GeneKISS1R
is asnp
is mentioned by
dbSNPrs104894703
dbSNP (classic)rs104894703
ClinGenrs104894703
ebirs104894703
HLIrs104894703
Exacrs104894703
Gnomadrs104894703
Varsomers104894703
LitVarrs104894703
Maprs104894703
PheGenIrs104894703
Biobankrs104894703
1000 genomesrs104894703
hgdprs104894703
ensemblrs104894703
geneviewrs104894703
scholarrs104894703
googlers104894703
pharmgkbrs104894703
gwascentralrs104894703
openSNPrs104894703
23andMers104894703
SNPshotrs104894703
SNPdbers104894703
MSV3drs104894703
GWAS Ctlgrs104894703
Max Magnitude0
OMIM604161
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894703(C;C)
Alt rs104894703(C;C)
Reference Rs104894703(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.918604T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000030882.6,