Have questions? Visit https://www.reddit.com/r/SNPedia

rs267599120

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267599120(A;A)
Make rs267599120(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188988590
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs267599120
ebirs267599120
HLIrs267599120
Exacrs267599120
Varsomers267599120
Maprs267599120
PheGenIrs267599120
hapmaprs267599120
1000 genomesrs267599120
hgdprs267599120
ensemblrs267599120
gopubmedrs267599120
geneviewrs267599120
scholarrs267599120
googlers267599120
pharmgkbrs267599120
gwascentralrs267599120
openSNPrs267599120
23andMers267599120
23andMe allrs267599120
SNP Nexus

SNPshotrs267599120
SNPdbers267599120
MSV3drs267599120
GWAS Ctlgrs267599120
Max Magnitude0
ClinVar
Risk rs267599120(A,C;A,C)
Alt rs267599120(A,C;A,C)
Reference rs267599120(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.189853316G>C
CLNSRC
CLNACC RCV000087630.1,