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rs138568622

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs138568622(C;C)
Make rs138568622(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position39040770
GeneSEC23A
is asnp
is mentioned by
dbSNPrs138568622
ebirs138568622
HLIrs138568622
Exacrs138568622
Varsomers138568622
Maprs138568622
PheGenIrs138568622
hapmaprs138568622
1000 genomesrs138568622
hgdprs138568622
ensemblrs138568622
gopubmedrs138568622
geneviewrs138568622
scholarrs138568622
googlers138568622
pharmgkbrs138568622
gwascentralrs138568622
openSNPrs138568622
23andMers138568622
23andMe allrs138568622
SNP Nexus

SNPshotrs138568622
SNPdbers138568622
MSV3drs138568622
GWAS Ctlgrs138568622
Max Magnitude0
ClinVar
Risk rs138568622(C;C)
Alt rs138568622(C;C)
Reference rs138568622(T;T)
Significance Pathogenic
Disease Craniolenticulosutural dysplasia
Variation info
Gene SEC23A
CLNDBN Craniolenticulosutural dysplasia
Reversed 0
HGVS NC_000014.8:g.39509974T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000032719.2,