rs137853336

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	2	associated with MODY1; maturity onset of diabetes in the young (type 1)

Make rs137853336(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

44413714

Gene

HNF4A

is a	snp
is	mentioned by
dbSNP	rs137853336
dbSNP (classic)	rs137853336
ClinGen	rs137853336
ebi	rs137853336
HLI	rs137853336
Exac	rs137853336
Gnomad	rs137853336
Varsome	rs137853336
LitVar	rs137853336
Map	rs137853336
PheGenI	rs137853336
Biobank	rs137853336
1000 genomes	rs137853336
hgdp	rs137853336
ensembl	rs137853336
geneview	rs137853336
scholar	rs137853336
google	rs137853336
pharmgkb	rs137853336
gwascentral	rs137853336
openSNP	rs137853336
23andMe	rs137853336
SNPshot	rs137853336
SNPdbe	rs137853336
MSV3d	rs137853336
GWAS Ctlg	rs137853336

Max Magnitude

2

aka c.406C>T (p.Arg136Trp or R136W); known in older literature as c.340C>T (p.Arg114Trp or R114W)

A 2019 study of >300,000 UK BioBank participants of European ancestry concluded that while this variant is associated with a higher risk of diabetes (OR 2.9, CI: 1.7-5.0, p=3x1-e-4), the penetrance was estimated to be <10%. Therefore, if this variant is seen in a diabetic, it might be the primary cause, but incidental discovery of the variant in a healthy (non-diabetic) individual is of little predictive value.[PMID 30665703 ]

See also OMIM 600281.0003

OMIM	600281
Desc
Variant	0003
Related	also

ClinVar
Risk	rs137853336(G;G) rs137853336(T;T)
Alt	rs137853336(G;G) rs137853336(T;T)
Reference	Rs137853336(C;C)
Significance	Pathogenic
Disease	Maturity-onset diabetes of the young
Variation	info
Gene	HNF4A
CLNDBN	Maturity-onset diabetes of the young, type 1
Reversed	0
HGVS	NC_000020.10:g.43042354C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009792.6,