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rs730882201

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730882201(A;A)
Make rs730882201(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position30336665
GeneARL14EP
is asnp
is mentioned by
dbSNPrs730882201
ebirs730882201
HLIrs730882201
Exacrs730882201
Varsomers730882201
Maprs730882201
PheGenIrs730882201
hapmaprs730882201
1000 genomesrs730882201
hgdprs730882201
ensemblrs730882201
gopubmedrs730882201
geneviewrs730882201
scholarrs730882201
googlers730882201
pharmgkbrs730882201
gwascentralrs730882201
openSNPrs730882201
23andMers730882201
23andMe allrs730882201
SNP Nexus

SNPshotrs730882201
SNPdbers730882201
MSV3drs730882201
GWAS Ctlgrs730882201
Max Magnitude0
ClinVar
Risk rs730882201(A;A)
Alt rs730882201(A;A)
Reference rs730882201(G;G)
Significance Probable-Pathogenic
Disease Abnormal facial shape Global developmental delay Microcephaly Truncal obesity not provided
Variation info
Gene ARL14EP
CLNDBN Abnormal facial shape Global developmental delay Microcephaly Truncal obesity not provided
Reversed 0
HGVS NC_000011.9:g.30358212G>A
CLNSRC
CLNACC RCV000162105.1, RCV000171460.1,