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rs66820119

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs66820119(A;A)
Make rs66820119(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position94401566
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs66820119
ebirs66820119
HLIrs66820119
Exacrs66820119
Varsomers66820119
Maprs66820119
PheGenIrs66820119
hapmaprs66820119
1000 genomesrs66820119
hgdprs66820119
ensemblrs66820119
gopubmedrs66820119
geneviewrs66820119
scholarrs66820119
googlers66820119
pharmgkbrs66820119
gwascentralrs66820119
openSNPrs66820119
23andMers66820119
23andMe allrs66820119
SNP Nexus

SNPshotrs66820119
SNPdbers66820119
MSV3drs66820119
GWAS Ctlgrs66820119
Max Magnitude0
ClinVar
Risk rs66820119(A,C;A,C)
Alt rs66820119(A,C;A,C)
Reference rs66820119(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL1A2
CLNDBN Ehlers-Danlos syndrome, type 7B
Reversed 0
HGVS NC_000007.13:g.94030878G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018797.30,