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rs875989819

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs875989819(A;A)
Make rs875989819(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position75113601
GeneCOL12A1
is asnp
is mentioned by
dbSNPrs875989819
ebirs875989819
HLIrs875989819
Exacrs875989819
Varsomers875989819
Maprs875989819
PheGenIrs875989819
hapmaprs875989819
1000 genomesrs875989819
hgdprs875989819
ensemblrs875989819
gopubmedrs875989819
geneviewrs875989819
scholarrs875989819
googlers875989819
pharmgkbrs875989819
gwascentralrs875989819
openSNPrs875989819
23andMers875989819
23andMe allrs875989819
SNP Nexus

SNPshotrs875989819
SNPdbers875989819
MSV3drs875989819
GWAS Ctlgrs875989819
Max Magnitude0
ClinVar
Risk rs875989819(A;A)
Alt rs875989819(A;A)
Reference rs875989819(G;G)
Significance Pathogenic
Disease Ullrich congenital muscular dystrophy 2
Variation info
Gene COL12A1
CLNDBN Ullrich congenital muscular dystrophy 2
Reversed 1
HGVS NC_000006.11:g.75823317C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000186498.2,