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rs786204794

From SNPedia

Orientationminus
Geno Mag Summary
(CCA;CCA) 0 common in clinvar
Make rs786204794(-;-)
Make rs786204794(-;CCA)
ReferenceGRCh38.p2 38.2/146
Chromosome21
Position37714700
GeneKCNJ6, LOC105372799
is asnp
is mentioned by
dbSNPrs786204794
ebirs786204794
HLIrs786204794
Exacrs786204794
Varsomers786204794
Maprs786204794
PheGenIrs786204794
hapmaprs786204794
1000 genomesrs786204794
hgdprs786204794
ensemblrs786204794
gopubmedrs786204794
geneviewrs786204794
scholarrs786204794
googlers786204794
pharmgkbrs786204794
gwascentralrs786204794
openSNPrs786204794
23andMers786204794
23andMe allrs786204794
SNP Nexus

SNPshotrs786204794
SNPdbers786204794
MSV3drs786204794
GWAS Ctlgrs786204794
Max Magnitude0
ClinVar
Risk rs786204794(;)
Alt rs786204794(;)
Reference rs786204794(CCA;CCA)
Significance Pathogenic
Disease Keppen-Lubinsky syndrome
Variation info
Gene KCNJ6
CLNDBN Keppen-Lubinsky syndrome
Reversed 1
HGVS NC_000021.8:g.39087003_39087005delTGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000169688.3,