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rs12483377

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1 no significant effect
(G;G) 0 common in clinvar
Make rs12483377(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position45511195
GeneCOL18A1
is asnp
is mentioned by
dbSNPrs12483377
ebirs12483377
HLIrs12483377
Exacrs12483377
Varsomers12483377
Maprs12483377
PheGenIrs12483377
hapmaprs12483377
1000 genomesrs12483377
hgdprs12483377
ensemblrs12483377
gopubmedrs12483377
geneviewrs12483377
scholarrs12483377
googlers12483377
pharmgkbrs12483377
gwascentralrs12483377
openSNPrs12483377
23andMers12483377
23andMe allrs12483377
SNP Nexus

SNPshotrs12483377
SNPdbers12483377
MSV3drs12483377
GWAS Ctlgrs12483377
GMAF0.0551
Max Magnitude1
? (A;A) (A;G) (G;G) 28
OMIM120328
Desc
Variant0004
Relatedalso


ClinVar
Risk rs12483377(A;A)
Alt rs12483377(A;A)
Reference rs12483377(G;G)
Significance Pathogenic
Disease Knobloch syndrome 1
Variation info
Gene COL18A1
CLNDBN Knobloch syndrome 1
Reversed 0
HGVS NC_000021.8:g.46931109G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018655.28,



[PMID 18805939OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.

[PMID 19493349OA-icon.png] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.

[PMID 19961619OA-icon.png] A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS).


GET Evidence
COL18A1-D1440N
aa_change Asp1440Asn
aa_change_short D1440N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0546875
summary