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rs780270096

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs780270096(C;C)
Make rs780270096(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position70028797
GeneRTTN
is asnp
is mentioned by
dbSNPrs780270096
ebirs780270096
HLIrs780270096
Exacrs780270096
Varsomers780270096
Maprs780270096
PheGenIrs780270096
hapmaprs780270096
1000 genomesrs780270096
hgdprs780270096
ensemblrs780270096
gopubmedrs780270096
geneviewrs780270096
scholarrs780270096
googlers780270096
pharmgkbrs780270096
gwascentralrs780270096
openSNPrs780270096
23andMers780270096
23andMe allrs780270096
SNP Nexus

SNPshotrs780270096
SNPdbers780270096
MSV3drs780270096
GWAS Ctlgrs780270096
Max Magnitude0
ClinVar
Risk rs780270096(C;C)
Alt rs780270096(C;C)
Reference rs780270096(T;T)
Significance Pathogenic
Disease Congenital microcephaly Microcephaly
Variation info
Gene RTTN
CLNDBN Congenital microcephaly Microcephaly, short stature, and polymicrogyria with or without seizures
Reversed 0
HGVS NC_000018.9:g.67696033T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000203564.1, RCV000210342.1,