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rs189754995

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs189754995(G;T)
Make rs189754995(T;T)
ReferenceGRCh38 38.1/142
Chromosome6
Position70255375
GeneCOL9A1
is asnp
is mentioned by
dbSNPrs189754995
ebirs189754995
HLIrs189754995
Exacrs189754995
Varsomers189754995
Maprs189754995
PheGenIrs189754995
hapmaprs189754995
1000 genomesrs189754995
hgdprs189754995
ensemblrs189754995
gopubmedrs189754995
geneviewrs189754995
scholarrs189754995
googlers189754995
pharmgkbrs189754995
gwascentralrs189754995
openSNPrs189754995
23andMers189754995
23andMe allrs189754995
SNP Nexus

SNPshotrs189754995
SNPdbers189754995
MSV3drs189754995
GWAS Ctlgrs189754995
Max Magnitude0
ClinVar
Risk rs189754995(A,T;A,T)
Alt rs189754995(A,T;A,T)
Reference rs189754995(G;G)
Significance Pathogenic
Disease Stickler syndrome
Variation info
Gene COL9A1
CLNDBN Stickler syndrome, type 4
Reversed 0
HGVS NC_000006.11:g.70965078G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000148951.2,