rs281875322

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	5.1	Juvenile polyposis syndrome

Make rs281875322(G;G)

Reference

GRCh38 38.1/141

Chromosome

18

Position

51078306

Gene

SMAD4

is a	snp
is	mentioned by
dbSNP	rs281875322
dbSNP (classic)	rs281875322
ClinGen	rs281875322
ebi	rs281875322
HLI	rs281875322
Exac	rs281875322
Gnomad	rs281875322
Varsome	rs281875322
LitVar	rs281875322
Map	rs281875322
PheGenI	rs281875322
Biobank	rs281875322
1000 genomes	rs281875322
hgdp	rs281875322
ensembl	rs281875322
geneview	rs281875322
scholar	rs281875322
google	rs281875322
pharmgkb	rs281875322
gwascentral	rs281875322
openSNP	rs281875322
23andMe	rs281875322
SNPshot	rs281875322
SNPdbe	rs281875322
MSV3d	rs281875322
GWAS Ctlg	rs281875322

Max Magnitude

5.1

ClinVar
Risk	rs281875322(G;G)
Alt	rs281875322(G;G)
Reference	Rs281875322(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.48604676A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000023061.5, RCV000059733.3,

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

[PMID 22243968] A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.