rs281875321

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;T)	5.1	Juvenile polyposis syndrome
(T;T)	0	common in clinvar

Make rs281875321(C;C)

Reference

GRCh38 38.1/141

Chromosome

18

Position

51078307

Gene

SMAD4

is a	snp
is	mentioned by
dbSNP	rs281875321
dbSNP (classic)	rs281875321
ClinGen	rs281875321
ebi	rs281875321
HLI	rs281875321
Exac	rs281875321
Gnomad	rs281875321
Varsome	rs281875321
LitVar	rs281875321
Map	rs281875321
PheGenI	rs281875321
Biobank	rs281875321
1000 genomes	rs281875321
hgdp	rs281875321
ensembl	rs281875321
geneview	rs281875321
scholar	rs281875321
google	rs281875321
pharmgkb	rs281875321
gwascentral	rs281875321
openSNP	rs281875321
23andMe	rs281875321
SNPshot	rs281875321
SNPdbe	rs281875321
MSV3d	rs281875321
GWAS Ctlg	rs281875321

Max Magnitude

5.1

ClinVar
Risk	rs281875321(C;C)
Alt	rs281875321(C;C)
Reference	Rs281875321(T;T)
Significance	Pathogenic
Disease	Myhre syndrome not provided
Variation	info
Gene	SMAD4
CLNDBN	Myhre syndrome not provided
Reversed	0
HGVS	NC_000018.9:g.48604677T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000023060.5, RCV000059734.1,

[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.