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rs112456072

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs112456072(A;A)
Make rs112456072(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position189008961
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs112456072
ClinGenrs112456072
ebirs112456072
HLIrs112456072
Exacrs112456072
Varsomers112456072
Maprs112456072
PheGenIrs112456072
hapmaprs112456072
1000 genomesrs112456072
hgdprs112456072
ensemblrs112456072
gopubmedrs112456072
geneviewrs112456072
scholarrs112456072
googlers112456072
pharmgkbrs112456072
gwascentralrs112456072
openSNPrs112456072
23andMers112456072
23andMe allrs112456072
SNP Nexus

SNPshotrs112456072
SNPdbers112456072
MSV3drs112456072
GWAS Ctlgrs112456072
Max Magnitude0
OMIM120180
Desc
Variant0017
Relatedalso
ClinVar
Risk rs112456072(A;A)
Alt rs112456072(A;A)
Reference Rs112456072(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.189873687G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1 OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018758.28,