Rs2075555

From SNPedia
Jump to: navigation, search

Orientationminus
Make rs2075555(A;A)
Make rs2075555(A;C)
Make rs2075555(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position50196930
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs2075555
Exacrs2075555
PheGenIrs2075555
nextbiors2075555
hapmaprs2075555
1000 genomesrs2075555
hgdprs2075555
ensemblrs2075555
gopubmedrs2075555
geneviewrs2075555
scholarrs2075555
googlers2075555
pharmgkbrs2075555
gwascentralrs2075555
openSNPrs2075555
23andMers2075555
23andMe allrs2075555
SNP Nexus

SNPshotrs2075555
SNPdbers2075555
MSV3drs2075555
GMAF0.2452
Max Magnitude
? (A;A) (A;C) (C;C) 28
GWAS
SNP rs2075555
PubMedID [PMID 17903305OA-icon.png]
Condition Breast cancer
Gene COL1A1
Risk Allele
pValue 8.00E-008
OR NA
95% CI



[PMID 21791674OA-icon.png] Interactions Between Genetic Variants and Breast Cancer Risk Factors in the Breast and Prostate Cancer Cohort Consortium


[PMID 22022476OA-icon.png] Common genetic variants are associated with accelerated bone mineral density loss after hematopoietic cell transplantation

10.1371/journal.pone.0025940 Associated with Accelerated Bone Mineral Density Loss after Hematopoietic Cell Transplantation


[PMID 22219633OA-icon.png] An association study of the COL1A1 gene and high myopia in a Han Chinese population


[PMID 17557158] The COL1A1 gene and high myopia susceptibility in Japanese.


[PMID 17903296OA-icon.png] Genome-wide association with bone mass and geometry in the Framingham Heart Study.


[PMID 18836165] Absence of association between COL1A1 polymorphisms and high myopia in the Japanese population.


[PMID 19180518] Associations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing.


[PMID 19260140OA-icon.png] Common variant in myocilin gene is associated with high myopia in isolated population of Korcula Island, Croatia.


GET Evidence
rs2075555
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.722222
summary



[PMID 24528085] Breast Cancer Association Studies in a Han Chinese Population using 10 European-ancestry-associated Breast Cancer Susceptibility SNPs