Have questions? Visit https://www.reddit.com/r/SNPedia

rs730882249

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730882249(C;T)
Make rs730882249(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position100105981
GeneAP4M1
is asnp
is mentioned by
dbSNPrs730882249
ebirs730882249
HLIrs730882249
Exacrs730882249
Varsomers730882249
Maprs730882249
PheGenIrs730882249
hapmaprs730882249
1000 genomesrs730882249
hgdprs730882249
ensemblrs730882249
gopubmedrs730882249
geneviewrs730882249
scholarrs730882249
googlers730882249
pharmgkbrs730882249
gwascentralrs730882249
openSNPrs730882249
23andMers730882249
23andMe allrs730882249
SNP Nexus

SNPshotrs730882249
SNPdbers730882249
MSV3drs730882249
GWAS Ctlgrs730882249
Max Magnitude0
ClinVar
Risk rs730882249(T;T)
Alt rs730882249(T;T)
Reference rs730882249(C;C)
Significance Pathogenic
Disease Brain atrophy CNS hypomyelination Global developmental delay Hypoplasia of the corpus callosum Microcephaly Spastic paraplegia 50
Variation info
Gene AP4M1
CLNDBN Brain atrophy CNS hypomyelination Global developmental delay Hypoplasia of the corpus callosum Microcephaly Spastic paraplegia 50, autosomal recessive
Reversed 0
HGVS NC_000007.13:g.99703604C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000162190.1, RCV000191923.2,