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rs201884120

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201884120(C;T)
Make rs201884120(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position70205267
GeneRTTN
is asnp
is mentioned by
dbSNPrs201884120
ebirs201884120
HLIrs201884120
Exacrs201884120
Varsomers201884120
Maprs201884120
PheGenIrs201884120
hapmaprs201884120
1000 genomesrs201884120
hgdprs201884120
ensemblrs201884120
gopubmedrs201884120
geneviewrs201884120
scholarrs201884120
googlers201884120
pharmgkbrs201884120
gwascentralrs201884120
openSNPrs201884120
23andMers201884120
23andMe allrs201884120
SNP Nexus

SNPshotrs201884120
SNPdbers201884120
MSV3drs201884120
GWAS Ctlgrs201884120
Max Magnitude0
ClinVar
Risk rs201884120(T;T)
Alt rs201884120(T;T)
Reference rs201884120(C;C)
Significance Pathogenic
Disease MICROCEPHALY not provided
Variation info
Gene RTTN
CLNDBN MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES not provided
Reversed 0
HGVS NC_000018.9:g.67872503C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000030786.3, RCV000059811.1,


[PMID 22939636OA-icon.png] RTTN mutations link primary cilia function to organization of the human cerebral cortex.