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rs1800447

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1800447(C;C)
Make rs1800447(C;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position49016648
GeneLHB
is asnp
is mentioned by
dbSNPrs1800447
ebirs1800447
HLIrs1800447
Exacrs1800447
Varsomers1800447
Maprs1800447
PheGenIrs1800447
hapmaprs1800447
1000 genomesrs1800447
hgdprs1800447
ensemblrs1800447
gopubmedrs1800447
geneviewrs1800447
scholarrs1800447
googlers1800447
pharmgkbrs1800447
gwascentralrs1800447
openSNPrs1800447
23andMers1800447
23andMe allrs1800447
SNP Nexus

SNPshotrs1800447
SNPdbers1800447
MSV3drs1800447
GWAS Ctlgrs1800447
GMAF0.06152
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM152780
DescLUTEINIZING HORMONE POLYMORPHISM
Variant0002
Relatedalso


ClinVar
Risk rs1800447(C;C)
Alt rs1800447(C;C)
Reference rs1800447(T;T)
Significance Non-pathogenic
Disease LUTEINIZING HORMONE POLYMORPHISM
Variation info
Gene LHB
CLNDBN LUTEINIZING HORMONE POLYMORPHISM
Reversed 1
HGVS NC_000019.9:g.49519905A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015495.3,



[PMID 18439297OA-icon.png] A luteinizing hormone receptor intronic variant is significantly associated with decreased risk of Alzheimer's disease in males carrying an apolipoprotein E epsilon4 allele.


[PMID 18603647OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.


GET Evidence
LHB-W28R
aa_change Trp28Arg
aa_change_short W28R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0632088
summary