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rs111505097

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111505097(A;A)
Make rs111505097(A;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position189008943
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs111505097
ebirs111505097
HLIrs111505097
Exacrs111505097
Varsomers111505097
Maprs111505097
PheGenIrs111505097
hapmaprs111505097
1000 genomesrs111505097
hgdprs111505097
ensemblrs111505097
gopubmedrs111505097
geneviewrs111505097
scholarrs111505097
googlers111505097
pharmgkbrs111505097
gwascentralrs111505097
openSNPrs111505097
23andMers111505097
23andMe allrs111505097
SNP Nexus

SNPshotrs111505097
SNPdbers111505097
MSV3drs111505097
GWAS Ctlgrs111505097
Max Magnitude0
ClinVar
Risk rs111505097(A,T;A,T)
Alt rs111505097(A,T;A,T)
Reference rs111505097(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189873669G>A; NC_000002.11:g.189873669G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087619.1, RCV000087592.1,