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rs786205104

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205104(G;T)
Make rs786205104(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position189061561
GeneCOL5A2
is asnp
is mentioned by
dbSNPrs786205104
ebirs786205104
HLIrs786205104
Exacrs786205104
Varsomers786205104
Maprs786205104
PheGenIrs786205104
hapmaprs786205104
1000 genomesrs786205104
hgdprs786205104
ensemblrs786205104
gopubmedrs786205104
geneviewrs786205104
scholarrs786205104
googlers786205104
pharmgkbrs786205104
gwascentralrs786205104
openSNPrs786205104
23andMers786205104
23andMe allrs786205104
SNP Nexus

SNPshotrs786205104
SNPdbers786205104
MSV3drs786205104
GWAS Ctlgrs786205104
Max Magnitude0
ClinVar
Risk rs786205104(T;T)
Alt rs786205104(T;T)
Reference rs786205104(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL5A2
CLNDBN Ehlers-Danlos syndrome, classic type
Reversed 1
HGVS NC_000002.11:g.189926287C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018737.28,