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rs281875320

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281875320(A;G)
Make rs281875320(G;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position51078308
GeneSMAD4
is asnp
is mentioned by
dbSNPrs281875320
ebirs281875320
HLIrs281875320
Exacrs281875320
Varsomers281875320
Maprs281875320
PheGenIrs281875320
hapmaprs281875320
1000 genomesrs281875320
hgdprs281875320
ensemblrs281875320
gopubmedrs281875320
geneviewrs281875320
scholarrs281875320
googlers281875320
pharmgkbrs281875320
gwascentralrs281875320
openSNPrs281875320
23andMers281875320
23andMe allrs281875320
SNP Nexus

SNPshotrs281875320
SNPdbers281875320
MSV3drs281875320
GWAS Ctlgrs281875320
Max Magnitude0
ClinVar
Risk rs281875320(G;G)
Alt rs281875320(G;G)
Reference rs281875320(A;A)
Significance Pathogenic
Disease Myhre syndrome not provided
Variation info
Gene SMAD4
CLNDBN Myhre syndrome not provided
Reversed 0
HGVS NC_000018.9:g.48604678A>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000023062.4, RCV000059735.1,


[PMID 22158539] Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.