rs121912581

Orientation

plus

Stabilized

plus

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

Make rs121912581(A;A)

Reference

GRCh38 38.1/141

Chromosome

18

Position

51065521

Gene

SMAD4

is a	snp
is	mentioned by
dbSNP	rs121912581
dbSNP (classic)	rs121912581
ClinGen	rs121912581
ebi	rs121912581
HLI	rs121912581
Exac	rs121912581
Gnomad	rs121912581
Varsome	rs121912581
LitVar	rs121912581
Map	rs121912581
PheGenI	rs121912581
Biobank	rs121912581
1000 genomes	rs121912581
hgdp	rs121912581
ensembl	rs121912581
geneview	rs121912581
scholar	rs121912581
google	rs121912581
pharmgkb	rs121912581
gwascentral	rs121912581
openSNP	rs121912581
23andMe	rs121912581
SNPshot	rs121912581
SNPdbe	rs121912581
MSV3d	rs121912581
GWAS Ctlg	rs121912581

Merged from

Rs28936394

Max Magnitude

5.1

OMIM	600993
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121912581(A;A)
Alt	rs121912581(A;A)
Reference	Rs121912581(G;G)
Significance	Pathogenic
Disease	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome JP and JP/HHT not provided
Variation	info
Gene	SMAD4
CLNDBN	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome JP and JP/HHT not provided
Reversed	0
HGVS	NC_000018.9:g.48591891G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000009075.2, RCV000021707.1, RCV000059731.1,

[PMID 12417513] Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.

[PMID 15031030] A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).