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rs786205103

From SNPedia

Orientationminus
Geno Mag Summary
(AGGGAGC;AGGGAGC) 0 common in clinvar
Make rs786205103(-;-)
Make rs786205103(-;AGGGAGC)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position189062914
GeneCOL5A2
is asnp
is mentioned by
dbSNPrs786205103
ebirs786205103
HLIrs786205103
Exacrs786205103
Varsomers786205103
Maprs786205103
PheGenIrs786205103
hapmaprs786205103
1000 genomesrs786205103
hgdprs786205103
ensemblrs786205103
gopubmedrs786205103
geneviewrs786205103
scholarrs786205103
googlers786205103
pharmgkbrs786205103
gwascentralrs786205103
openSNPrs786205103
23andMers786205103
23andMe allrs786205103
SNP Nexus

SNPshotrs786205103
SNPdbers786205103
MSV3drs786205103
GWAS Ctlgrs786205103
Max Magnitude0
ClinVar
Risk rs786205103(;)
Alt rs786205103(;)
Reference rs786205103(AGGGAGC;AGGGAGC)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL5A2
CLNDBN Ehlers-Danlos syndrome, classic type
Reversed 1
HGVS NC_000002.11:g.189927640_189927646delGCTCCCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000018736.28,