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rs1516446

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
(T;T) 0 common in clinvar
Make rs1516446(G;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position189010695
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs1516446
ebirs1516446
HLIrs1516446
Exacrs1516446
Varsomers1516446
Maprs1516446
PheGenIrs1516446
hapmaprs1516446
1000 genomesrs1516446
hgdprs1516446
ensemblrs1516446
gopubmedrs1516446
geneviewrs1516446
scholarrs1516446
googlers1516446
pharmgkbrs1516446
gwascentralrs1516446
openSNPrs1516446
23andMers1516446
23andMe allrs1516446
SNP Nexus

SNPshotrs1516446
SNPdbers1516446
MSV3drs1516446
GWAS Ctlgrs1516446
GMAF0.003214
Max Magnitude0
? (G;G) (G;T) (T;T) 28


Venter snp
Source plos
Gene COL3A1
allele G
frequency 1
sift
HuRef 1103658318908
Disease Association Defects in COL3A1 are the cause of type IV Ehlers-Danlos syndrome (EDS-IV) (MIM:130050). EDS-IV is the most severe form of the disease, in that it often produces life-threatening consequences, such as rupture of the arteries, bowel, or uterus. A variant form of EDS-IV is Gottron type acrogeria (MIM:201200). The main characteristics are atrophy and mottled-type hyperpigmentation of the acral skin, resulting in an aged appearance.



GET Evidence
COL3A1-H1353Q
aa_change His1353Gln
aa_change_short H1353Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.994423
summary



ClinVar
Risk rs1516446(G;G)
Alt rs1516446(G;G)
Reference rs1516446(T;T)
Significance Non-pathogenic
Disease not specified
Variation info
Gene COL3A1
CLNDBN not specified
Reversed 0
HGVS NC_000002.11:g.189875421T\x3d; NC_000002.11:g.189875421T>G
CLNSRC ClinVar GeneDx
CLNACC RCV000124416.2, RCV000218509.1,