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rs183495554

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs183495554(C;C)
Make rs183495554(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position134834960
GeneCOL5A1, LOC101448202
is asnp
is mentioned by
dbSNPrs183495554
ebirs183495554
HLIrs183495554
Exacrs183495554
Varsomers183495554
Maprs183495554
PheGenIrs183495554
hapmaprs183495554
1000 genomesrs183495554
hgdprs183495554
ensemblrs183495554
gopubmedrs183495554
geneviewrs183495554
scholarrs183495554
googlers183495554
pharmgkbrs183495554
gwascentralrs183495554
openSNPrs183495554
23andMers183495554
23andMe allrs183495554
SNP Nexus

SNPshotrs183495554
SNPdbers183495554
MSV3drs183495554
GWAS Ctlgrs183495554
Max Magnitude0
ClinVar
Risk rs183495554(A,C;A,C)
Alt rs183495554(A,C;A,C)
Reference rs183495554(T;T)
Significance Pathogenic
Disease Ehlers-Danlos syndrome not specified
Variation info
Gene COL5A1
CLNDBN Ehlers-Danlos syndrome, classic type not specified
Reversed 0
HGVS NC_000009.11:g.137726806T>A; NC_000009.11:g.137726806T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018727.24, RCV000124469.3, RCV000231448.1,