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rs1061237

From SNPedia

Orientationminus
Stabilizedminus
Make rs1061237(C;C)
Make rs1061237(C;T)
Make rs1061237(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position50185414
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs1061237
ClinGenrs1061237
ebirs1061237
HLIrs1061237
Exacrs1061237
Varsomers1061237
Maprs1061237
PheGenIrs1061237
hapmaprs1061237
1000 genomesrs1061237
hgdprs1061237
ensemblrs1061237
gopubmedrs1061237
geneviewrs1061237
scholarrs1061237
googlers1061237
pharmgkbrs1061237
gwascentralrs1061237
openSNPrs1061237
23andMers1061237
23andMe allrs1061237
SNP Nexus

SNPshotrs1061237
SNPdbers1061237
MSV3drs1061237
GWAS Ctlgrs1061237
Max Magnitude
? (C;C) (C;T) (T;T) 28
[PMID 25562121OA-icon.png] Wound healing genes and susceptibility to cutaneous leishmaniasis in Brazil: role of COL1A1


ClinVar
Risk rs1061237(A;A) rs1061237(C;C)
Alt rs1061237(A;A) rs1061237(C;C)
Reference rs1061237(T;T)
Significance Probable-non-pathogenic
Disease Osteogenesis Imperfecta Ehlers-Danlos syndrome Infantile cortical hyperostosis
Variation info
Gene COL1A1
CLNDBN Osteogenesis Imperfecta, Dominant Ehlers-Danlos syndrome, type 7A Infantile cortical hyperostosis
Reversed 1
HGVS NC_000017.10:g.48262775A>G
CLNSRC
CLNACC RCV000287367.1, RCV000322041.1, RCV000376642.1,