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

rs200722892

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200722892(A;A)
Make rs200722892(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position237378831
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs200722892
dbSNP (classic)rs200722892
ClinGenrs200722892
ebirs200722892
HLIrs200722892
Exacrs200722892
Gnomadrs200722892
Varsomers200722892
LitVarrs200722892
Maprs200722892
PheGenIrs200722892
Biobankrs200722892
1000 genomesrs200722892
hgdprs200722892
ensemblrs200722892
geneviewrs200722892
scholarrs200722892
googlers200722892
pharmgkbrs200722892
gwascentralrs200722892
openSNPrs200722892
23andMers200722892
SNPshotrs200722892
SNPdbers200722892
MSV3drs200722892
GWAS Ctlgrs200722892
Max Magnitude0
ClinVar
Risk rs200722892(A;A) rs200722892(C;C)
Alt rs200722892(A;A) rs200722892(C;C)
Reference Rs200722892(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene COL6A3
CLNDBN not provided
Reversed 0
HGVS NC_000002.11:g.238287474G>C
CLNSRC
CLNACC RCV000171340.1,