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rs80338758

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338758(C;T)
Make rs80338758(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71127367
GeneMED12
is asnp
is mentioned by
dbSNPrs80338758
ebirs80338758
HLIrs80338758
Exacrs80338758
Varsomers80338758
Maprs80338758
PheGenIrs80338758
hapmaprs80338758
1000 genomesrs80338758
hgdprs80338758
ensemblrs80338758
gopubmedrs80338758
geneviewrs80338758
scholarrs80338758
googlers80338758
pharmgkbrs80338758
gwascentralrs80338758
openSNPrs80338758
23andMers80338758
23andMe allrs80338758
SNP Nexus

SNPshotrs80338758
SNPdbers80338758
MSV3drs80338758
GWAS Ctlgrs80338758
Max Magnitude0
OMIM300188
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80338758(T;T)
Alt rs80338758(T;T)
Reference rs80338758(C;C)
Significance Pathogenic
Disease FG syndrome not provided
Variation info
Gene MED12
CLNDBN FG syndrome not provided
Reversed 0
HGVS NC_000023.10:g.70347217C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012276.22, RCV000200224.1,


[PMID 17334363] A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.