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rs727502819

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727502819(A;G)
Make rs727502819(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position210804149
GeneKCNH1
is asnp
is mentioned by
dbSNPrs727502819
ebirs727502819
HLIrs727502819
Exacrs727502819
Varsomers727502819
Maprs727502819
PheGenIrs727502819
hapmaprs727502819
1000 genomesrs727502819
hgdprs727502819
ensemblrs727502819
gopubmedrs727502819
geneviewrs727502819
scholarrs727502819
googlers727502819
pharmgkbrs727502819
gwascentralrs727502819
openSNPrs727502819
23andMers727502819
23andMe allrs727502819
SNP Nexus

SNPshotrs727502819
SNPdbers727502819
MSV3drs727502819
GWAS Ctlgrs727502819
Max Magnitude0
ClinVar
Risk rs727502819(G;G)
Alt rs727502819(G;G)
Reference rs727502819(A;A)
Significance Pathogenic
Disease Temple-Baraitser syndrome Zimmermann-Laband syndrome 1
Variation info
Gene KCNH1
CLNDBN Temple-Baraitser syndrome Zimmermann-Laband syndrome 1
Reversed 1
HGVS NC_000001.10:g.210977491T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000149910.5, RCV000185590.3,