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rs553203474

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs553203474(A;A)
Make rs553203474(A;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position188999570
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs553203474
ebirs553203474
HLIrs553203474
Exacrs553203474
Varsomers553203474
Maprs553203474
PheGenIrs553203474
hapmaprs553203474
1000 genomesrs553203474
hgdprs553203474
ensemblrs553203474
gopubmedrs553203474
geneviewrs553203474
scholarrs553203474
googlers553203474
pharmgkbrs553203474
gwascentralrs553203474
openSNPrs553203474
23andMers553203474
23andMe allrs553203474
SNP Nexus

SNPshotrs553203474
SNPdbers553203474
MSV3drs553203474
GWAS Ctlgrs553203474
Max Magnitude0
ClinVar
Risk rs553203474(A;A)
Alt rs553203474(A;A)
Reference rs553203474(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189864296G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087343.1,