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rs730882210

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730882210(C;C)
Make rs730882210(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome20
Position45304356
GeneMATN4
is asnp
is mentioned by
dbSNPrs730882210
ebirs730882210
HLIrs730882210
Exacrs730882210
Varsomers730882210
Maprs730882210
PheGenIrs730882210
hapmaprs730882210
1000 genomesrs730882210
hgdprs730882210
ensemblrs730882210
gopubmedrs730882210
geneviewrs730882210
scholarrs730882210
googlers730882210
pharmgkbrs730882210
gwascentralrs730882210
openSNPrs730882210
23andMers730882210
23andMe allrs730882210
SNP Nexus

SNPshotrs730882210
SNPdbers730882210
MSV3drs730882210
GWAS Ctlgrs730882210
Max Magnitude0
ClinVar
Risk rs730882210(C;C)
Alt rs730882210(C;C)
Reference rs730882210(G;G)
Significance Probable-Pathogenic
Disease Diabetes insipidus Global developmental delay Holoprosencephaly Lumbosacral myelomeningocele Microcephaly Proptosis Seizures
Variation info
Gene MATN4
CLNDBN Diabetes insipidus Global developmental delay Holoprosencephaly Lumbosacral myelomeningocele Microcephaly Proptosis Seizures
Reversed 1
HGVS NC_000020.10:g.43932996C>G
CLNSRC
CLNACC RCV000162116.1,