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rs727502820

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727502820(C;T)
Make rs727502820(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position210804083
GeneKCNH1
is asnp
is mentioned by
dbSNPrs727502820
ebirs727502820
HLIrs727502820
Exacrs727502820
Varsomers727502820
Maprs727502820
PheGenIrs727502820
hapmaprs727502820
1000 genomesrs727502820
hgdprs727502820
ensemblrs727502820
gopubmedrs727502820
geneviewrs727502820
scholarrs727502820
googlers727502820
pharmgkbrs727502820
gwascentralrs727502820
openSNPrs727502820
23andMers727502820
23andMe allrs727502820
SNP Nexus

SNPshotrs727502820
SNPdbers727502820
MSV3drs727502820
GWAS Ctlgrs727502820
Max Magnitude0
ClinVar
Risk rs727502820(T;T)
Alt rs727502820(T;T)
Reference rs727502820(C;C)
Significance Pathogenic
Disease Temple-Baraitser syndrome
Variation info
Gene KCNH1
CLNDBN Temple-Baraitser syndrome
Reversed 1
HGVS NC_000001.10:g.210977425G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000149911.5,