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rs387906606

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906606(C;T)
Make rs387906606(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position134805044
GeneCOL5A1
is asnp
is mentioned by
dbSNPrs387906606
ebirs387906606
HLIrs387906606
Exacrs387906606
Varsomers387906606
Maprs387906606
PheGenIrs387906606
hapmaprs387906606
1000 genomesrs387906606
hgdprs387906606
ensemblrs387906606
gopubmedrs387906606
geneviewrs387906606
scholarrs387906606
googlers387906606
pharmgkbrs387906606
gwascentralrs387906606
openSNPrs387906606
23andMers387906606
23andMe allrs387906606
SNP Nexus

SNPshotrs387906606
SNPdbers387906606
MSV3drs387906606
GWAS Ctlgrs387906606
Max Magnitude0
ClinVar
Risk rs387906606(T;T)
Alt rs387906606(T;T)
Reference rs387906606(C;C)
Significance Pathogenic
Disease Ehlers-Danlos syndrome not provided
Variation info
Gene COL5A1
CLNDBN Ehlers-Danlos syndrome, classic type not provided
Reversed 0
HGVS NC_000009.11:g.137696890C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022486.28, RCV000199830.1,