Have questions? Visit https://www.reddit.com/r/SNPedia

rs1801197

From SNPedia

Orientationminus
Stabilizedminus
Make rs1801197(C;C)
Make rs1801197(C;T)
Make rs1801197(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position93426441
GeneCALCR
is asnp
is mentioned by
dbSNPrs1801197
ebirs1801197
HLIrs1801197
Exacrs1801197
Varsomers1801197
Maprs1801197
PheGenIrs1801197
hapmaprs1801197
1000 genomesrs1801197
hgdprs1801197
ensemblrs1801197
gopubmedrs1801197
geneviewrs1801197
scholarrs1801197
googlers1801197
pharmgkbrs1801197
gwascentralrs1801197
openSNPrs1801197
23andMers1801197
23andMe allrs1801197
SNP Nexus

SNPshotrs1801197
SNPdbers1801197
MSV3drs1801197
GWAS Ctlgrs1801197
GMAF0.472
Max Magnitude
? (C;C) (C;T) (T;T) 28
OMIM114131
Desc
Variant0001
Relatedalso


ClinVar
Risk rs1801197(C;C)
Alt rs1801197(C;C)
Reference rs1801197(T;T)
Significance Other
Disease Bone mineral density quantitative trait locus 15
Variation info
Gene CALCR
CLNDBN Bone mineral density quantitative trait locus 15
Reversed 1
HGVS NC_000007.13:g.93055753A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019203.2,



[PMID 17002564OA-icon.png] Robust and comprehensive analysis of 20 osteoporosis candidate genes by very high-density single-nucleotide polymorphism screen among 405 white nuclear families identified significant association and gene-gene interaction.

[PMID 18551993] SNP combinations in chromosome-wide genes are associated with bone mineral density in Taiwanese women.

[PMID 18787887OA-icon.png] Genetic variation in candidate osteoporosis genes, bone mineral density, and fracture risk: the study of osteoporotic fractures.


GET Evidence
CALCR-L481P
aa_change Leu481Pro
aa_change_short L481P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary