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rs397509370

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397509370(A;A)
Make rs397509370(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position188994595
GeneCOL3A1, MIR3606
is asnp
is mentioned by
dbSNPrs397509370
ebirs397509370
HLIrs397509370
Exacrs397509370
Varsomers397509370
Maprs397509370
PheGenIrs397509370
hapmaprs397509370
1000 genomesrs397509370
hgdprs397509370
ensemblrs397509370
gopubmedrs397509370
geneviewrs397509370
scholarrs397509370
googlers397509370
pharmgkbrs397509370
gwascentralrs397509370
openSNPrs397509370
23andMers397509370
23andMe allrs397509370
SNP Nexus

SNPshotrs397509370
SNPdbers397509370
MSV3drs397509370
GWAS Ctlgrs397509370
Max Magnitude0
ClinVar
Risk rs397509370(A,T;A,T)
Alt rs397509370(A,T;A,T)
Reference rs397509370(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome Ehlers-Danlos syndrome
Variation info
Gene COL3A1 MIR3606
CLNDBN Ehlers-Danlos syndrome, type 4 variant Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189859321G>A; NC_000002.11:g.189859321G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1 OMIM Allelic Variant
CLNACC RCV000018742.24, RCV000087697.1, RCV000087712.1,