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rs397509375

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397509375(C;C)
Make rs397509375(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position188988140
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs397509375
ebirs397509375
HLIrs397509375
Exacrs397509375
Varsomers397509375
Maprs397509375
PheGenIrs397509375
hapmaprs397509375
1000 genomesrs397509375
hgdprs397509375
ensemblrs397509375
gopubmedrs397509375
geneviewrs397509375
scholarrs397509375
googlers397509375
pharmgkbrs397509375
gwascentralrs397509375
openSNPrs397509375
23andMers397509375
23andMe allrs397509375
SNP Nexus

SNPshotrs397509375
SNPdbers397509375
MSV3drs397509375
GWAS Ctlgrs397509375
Max Magnitude0
ClinVar
Risk rs397509375(A,C;A,C)
Alt rs397509375(A,C;A,C)
Reference rs397509375(T;T)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189852866T>A; NC_000002.11:g.189852866T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000087497.1, RCV000018760.28,