rs281875320

Orientation

plus

Stabilized

plus

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

Make rs281875320(G;G)

Reference

GRCh38 38.1/141

Chromosome

18

Position

51078308

Gene

SMAD4

is a	snp
is	mentioned by
dbSNP	rs281875320
dbSNP (classic)	rs281875320
ClinGen	rs281875320
ebi	rs281875320
HLI	rs281875320
Exac	rs281875320
Gnomad	rs281875320
Varsome	rs281875320
LitVar	rs281875320
Map	rs281875320
PheGenI	rs281875320
Biobank	rs281875320
1000 genomes	rs281875320
hgdp	rs281875320
ensembl	rs281875320
geneview	rs281875320
scholar	rs281875320
google	rs281875320
pharmgkb	rs281875320
gwascentral	rs281875320
openSNP	rs281875320
23andMe	rs281875320
SNPshot	rs281875320
SNPdbe	rs281875320
MSV3d	rs281875320
GWAS Ctlg	rs281875320

Max Magnitude

5.1

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 (protein) UniProtKB (variants)
CLNACC	RCV000023062.4, RCV000059735.1,

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