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rs193922475

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ACGACCAGGTGAGGATGG;ACGACCAGGTGAGGATGG) 0 common in clinvar
(I;I) 0 common genotype
(TGGACGACCAGGTGAGGA;TGGACGACCAGGTGAGGA) 0 common in clinvar
Make rs193922475(-;-)
Make rs193922475(-;ACGACCAGGTGAGGATGG)
ReferenceGRCh38 38.1/141
Chromosome20
Position44414655
GeneHNF4A
is asnp
is mentioned by
dbSNPrs193922475
dbSNP (classic)rs193922475
ClinGenrs193922475
ebirs193922475
HLIrs193922475
Exacrs193922475
Gnomadrs193922475
Varsomers193922475
LitVarrs193922475
Maprs193922475
PheGenIrs193922475
Biobankrs193922475
1000 genomesrs193922475
hgdprs193922475
ensemblrs193922475
geneviewrs193922475
scholarrs193922475
googlers193922475
pharmgkbrs193922475
gwascentralrs193922475
openSNPrs193922475
23andMers193922475
SNPshotrs193922475
SNPdbers193922475
MSV3drs193922475
GWAS Ctlgrs193922475
Max Magnitude0
ClinVar
Risk rs193922475(-;-)
Alt rs193922475(-;-)
Reference Rs193922475(TGGACGACCAGGTGAGGA;TGGACGACCAGGTGAGGA)
Significance Probable-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.43043295_43043312del18
CLNSRC ClinVar
CLNACC RCV000030025.1,