rs193922578

plus

Geno	Mag	Summary
(-;C)	3.6	Mature onset diabetes of the young (type 3)
(C;C)	0	common in clinvar

Make rs193922578(-;-)

Reference

GRCh38 38.1/141

Chromosome

12

Position

120978898

Gene

HNF1A

is a	snp
is	mentioned by
dbSNP	rs193922578
dbSNP (classic)	rs193922578
ClinGen	rs193922578
ebi	rs193922578
HLI	rs193922578
Exac	rs193922578
Gnomad	rs193922578
Varsome	rs193922578
LitVar	rs193922578
Map	rs193922578
PheGenI	rs193922578
Biobank	rs193922578
1000 genomes	rs193922578
hgdp	rs193922578
ensembl	rs193922578
geneview	rs193922578
scholar	rs193922578
google	rs193922578
pharmgkb	rs193922578
gwascentral	rs193922578
openSNP	rs193922578
23andMe	rs193922578
SNPshot	rs193922578
SNPdbe	rs193922578
MSV3d	rs193922578
GWAS Ctlg	rs193922578

Max Magnitude

3.6

ClinVar
Risk	rs193922578(-;-)
Alt	rs193922578(-;-)
Reference	Rs193922578(C;C)
Significance	Pathogenic
Disease	Maturity-onset diabetes of the young
Variation	info
Gene	HNF1A
CLNDBN	Maturity-onset diabetes of the young, type 3
Reversed	0
HGVS	NC_000012.11:g.121416701delC
CLNSRC	ClinVar LabCorp
CLNACC	RCV000030478.1,

[PMID 12453976] Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1alpha mutations: evidence for parent-of-origin effect.