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rs387907363

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs387907363(-;-)
Make rs387907363(-;A)
Make rs387907363(A;A)
ReferenceGRCh38 38.1/141
Chromosome22
Position20881101
GeneSNAP29
is asnp
is mentioned by
dbSNPrs387907363
ebirs387907363
HLIrs387907363
Exacrs387907363
Varsomers387907363
Maprs387907363
PheGenIrs387907363
hapmaprs387907363
1000 genomesrs387907363
hgdprs387907363
ensemblrs387907363
gopubmedrs387907363
geneviewrs387907363
scholarrs387907363
googlers387907363
pharmgkbrs387907363
gwascentralrs387907363
openSNPrs387907363
23andMers387907363
23andMe allrs387907363
SNP Nexus

SNPshotrs387907363
SNPdbers387907363
MSV3drs387907363
GWAS Ctlgrs387907363
Max Magnitude0
ClinVar
Risk rs387907363(A;A)
Alt rs387907363(A;A)
Reference rs387907363(;)
Significance Pathogenic
Disease Cerebral dysgenesis
Variation info
Gene SNAP29
CLNDBN Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
Reversed 0
HGVS NC_000022.10:g.21235389dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000043503.4,