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rs786205593

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205593(A;A)
Make rs786205593(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position117799821
GeneEXT1
is asnp
is mentioned by
dbSNPrs786205593
dbSNP (classic)rs786205593
ClinGenrs786205593
ebirs786205593
HLIrs786205593
Exacrs786205593
Gnomadrs786205593
Varsomers786205593
LitVarrs786205593
Maprs786205593
PheGenIrs786205593
Biobankrs786205593
1000 genomesrs786205593
hgdprs786205593
ensemblrs786205593
geneviewrs786205593
scholarrs786205593
googlers786205593
pharmgkbrs786205593
gwascentralrs786205593
openSNPrs786205593
23andMers786205593
SNPshotrs786205593
SNPdbers786205593
MSV3drs786205593
GWAS Ctlgrs786205593
Max Magnitude0
ClinVar
Risk rs786205593(A;A)
Alt rs786205593(A;A)
Reference Rs786205593(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene EXT1
CLNDBN not provided
Reversed 1
HGVS NC_000008.10:g.118812060C>T
CLNSRC
CLNACC RCV000171418.1,