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rs527236031

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs527236031(C;T)
Make rs527236031(T;T)
ReferenceGRCh38 38.1/142
Chromosome20
Position45424323
GeneMIR6812, PIGT
is asnp
is mentioned by
dbSNPrs527236031
ebirs527236031
HLIrs527236031
Exacrs527236031
Varsomers527236031
Maprs527236031
PheGenIrs527236031
hapmaprs527236031
1000 genomesrs527236031
hgdprs527236031
ensemblrs527236031
gopubmedrs527236031
geneviewrs527236031
scholarrs527236031
googlers527236031
pharmgkbrs527236031
gwascentralrs527236031
openSNPrs527236031
23andMers527236031
23andMe allrs527236031
SNP Nexus

SNPshotrs527236031
SNPdbers527236031
MSV3drs527236031
GWAS Ctlgrs527236031
Max Magnitude0
ClinVar
Risk rs527236031(T;T)
Alt rs527236031(T;T)
Reference rs527236031(C;C)
Significance Pathogenic
Disease Multiple congenital anomalies-hypotonia-seizures syndrome 3
Variation info
Gene MIR6812 PIGT
CLNDBN Multiple congenital anomalies-hypotonia-seizures syndrome 3
Reversed 0
HGVS NC_000020.10:g.44052963C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000132728.2,