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rs1800215

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in complete genomics
Make rs1800215(A;A)
Make rs1800215(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50188134
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs1800215
ebirs1800215
HLIrs1800215
Exacrs1800215
Varsomers1800215
Maprs1800215
PheGenIrs1800215
hapmaprs1800215
1000 genomesrs1800215
hgdprs1800215
ensemblrs1800215
gopubmedrs1800215
geneviewrs1800215
scholarrs1800215
googlers1800215
pharmgkbrs1800215
gwascentralrs1800215
openSNPrs1800215
23andMers1800215
23andMe allrs1800215
SNP Nexus

SNPshotrs1800215
SNPdbers1800215
MSV3drs1800215
GWAS Ctlgrs1800215
GMAF0.02388
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene COL1A1
allele C
frequency 0.982
sift TOLERATED
HuRef 1103645339244
Disease Association A chromosomal aberration involving COL1A1 is a cause of dermatofibrosarcoma protuberans (DFSP) (MIM:607907). Translocation t(17;22)(q22;q13) with PDGF. DFSP is an uncommon, locally aggressive, but rarely metastasizing tumor of the deep dermis and subcutaneous tissue. It typically occurs during early or middle adult life and is most frequently located on the trunk and proximal extremities.



[PMID 15113403OA-icon.png] Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis.

[PMID 15157284OA-icon.png] Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes.

[PMID 18996919OA-icon.png] Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.

[PMID 19152976OA-icon.png] Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity.


GET Evidence
COL1A1-T1075A
aa_change Thr1075Ala
aa_change_short T1075A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.970533
summary