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rs727502822

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727502822(C;C)
Make rs727502822(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position211019164
GeneKCNH1
is asnp
is mentioned by
dbSNPrs727502822
ebirs727502822
HLIrs727502822
Exacrs727502822
Varsomers727502822
Maprs727502822
PheGenIrs727502822
hapmaprs727502822
1000 genomesrs727502822
hgdprs727502822
ensemblrs727502822
gopubmedrs727502822
geneviewrs727502822
scholarrs727502822
googlers727502822
pharmgkbrs727502822
gwascentralrs727502822
openSNPrs727502822
23andMers727502822
23andMe allrs727502822
SNP Nexus

SNPshotrs727502822
SNPdbers727502822
MSV3drs727502822
GWAS Ctlgrs727502822
Max Magnitude0
ClinVar
Risk rs727502822(C;C)
Alt rs727502822(C;C)
Reference rs727502822(G;G)
Significance Pathogenic
Disease Temple-Baraitser syndrome
Variation info
Gene KCNH1
CLNDBN Temple-Baraitser syndrome
Reversed 1
HGVS NC_000001.10:g.211192506C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000149913.3,