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rs730882250

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs730882250(C;C)
Make rs730882250(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position2039760
GeneDPH1
is asnp
is mentioned by
dbSNPrs730882250
ebirs730882250
HLIrs730882250
Exacrs730882250
Varsomers730882250
Maprs730882250
PheGenIrs730882250
hapmaprs730882250
1000 genomesrs730882250
hgdprs730882250
ensemblrs730882250
gopubmedrs730882250
geneviewrs730882250
scholarrs730882250
googlers730882250
pharmgkbrs730882250
gwascentralrs730882250
openSNPrs730882250
23andMers730882250
23andMe allrs730882250
SNP Nexus

SNPshotrs730882250
SNPdbers730882250
MSV3drs730882250
GWAS Ctlgrs730882250
Max Magnitude0
ClinVar
Risk rs730882250(C,G;C,G)
Alt rs730882250(C,G;C,G)
Reference rs730882250(T;T)
Significance Pathogenic
Disease Cerebellar vermis hypoplasia Dandy-Walker malformation Global developmental delay Hydrocephalus Developmental delay with short stature
Variation info
Gene DPH1
CLNDBN Cerebellar vermis hypoplasia Dandy-Walker malformation Global developmental delay Hydrocephalus Developmental delay with short stature, dysmorphic features, and sparse hair
Reversed 0
HGVS NC_000017.10:g.1943054T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000162191.1, RCV000210874.1,