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rs145189179

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs145189179(A;A)
Make rs145189179(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position168045209
GeneDCAF6
is asnp
is mentioned by
dbSNPrs145189179
dbSNP (classic)rs145189179
ClinGenrs145189179
ebirs145189179
HLIrs145189179
Exacrs145189179
Gnomadrs145189179
Varsomers145189179
LitVarrs145189179
Maprs145189179
PheGenIrs145189179
Biobankrs145189179
1000 genomesrs145189179
hgdprs145189179
ensemblrs145189179
geneviewrs145189179
scholarrs145189179
googlers145189179
pharmgkbrs145189179
gwascentralrs145189179
openSNPrs145189179
23andMers145189179
SNPshotrs145189179
SNPdbers145189179
MSV3drs145189179
GWAS Ctlgrs145189179
Max Magnitude0
ClinVar
Risk rs145189179(A;A)
Alt rs145189179(A;A)
Reference Rs145189179(G;G)
Significance Probable-Pathogenic
Disease Cerebral visual impairment and intellectual disability
Variation info
Gene DCAF6
CLNDBN Cerebral visual impairment and intellectual disability
Reversed 0
HGVS NC_000001.10:g.168014447G>A
CLNSRC
CLNACC RCV000210411.1,