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rs869312906

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312906(-;-)
Make rs869312906(-;G)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position20859333
GenePI4KA, SNAP29
is asnp
is mentioned by
dbSNPrs869312906
ebirs869312906
HLIrs869312906
Exacrs869312906
Varsomers869312906
Maprs869312906
PheGenIrs869312906
hapmaprs869312906
1000 genomesrs869312906
hgdprs869312906
ensemblrs869312906
gopubmedrs869312906
geneviewrs869312906
scholarrs869312906
googlers869312906
pharmgkbrs869312906
gwascentralrs869312906
openSNPrs869312906
23andMers869312906
23andMe allrs869312906
SNP Nexus

SNPshotrs869312906
SNPdbers869312906
MSV3drs869312906
GWAS Ctlgrs869312906
Max Magnitude0
ClinVar
Risk rs869312906(;)
Alt rs869312906(;)
Reference rs869312906(G;G)
Significance Pathogenic
Disease Cerebral dysgenesis
Variation info
Gene SNAP29 PI4KA
CLNDBN Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
Reversed 0
HGVS NC_000022.10:g.21213621delG
CLNSRC
CLNACC RCV000210470.1,