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rs727503882

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503882(C;C)
Make rs727503882(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position48004236
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs727503882
ebirs727503882
HLIrs727503882
Exacrs727503882
Varsomers727503882
Maprs727503882
PheGenIrs727503882
hapmaprs727503882
1000 genomesrs727503882
hgdprs727503882
ensemblrs727503882
gopubmedrs727503882
geneviewrs727503882
scholarrs727503882
googlers727503882
pharmgkbrs727503882
gwascentralrs727503882
openSNPrs727503882
23andMers727503882
23andMe allrs727503882
SNP Nexus

SNPshotrs727503882
SNPdbers727503882
MSV3drs727503882
GWAS Ctlgrs727503882
Max Magnitude0
ClinVar
Risk rs727503882(C;C)
Alt rs727503882(C;C)
Reference rs727503882(G;G)
Significance Pathogenic
Disease not provided Stickler syndrome type 1
Variation info
Gene COL2A1
CLNDBN not provided Stickler syndrome type 1
Reversed 1
HGVS NC_000012.11:g.48398019C>G
CLNSRC
CLNACC RCV000153078.2, RCV000173262.1,