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rs727502821

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727502821(A;G)
Make rs727502821(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position210804121
GeneKCNH1
is asnp
is mentioned by
dbSNPrs727502821
ebirs727502821
HLIrs727502821
Exacrs727502821
Varsomers727502821
Maprs727502821
PheGenIrs727502821
hapmaprs727502821
1000 genomesrs727502821
hgdprs727502821
ensemblrs727502821
gopubmedrs727502821
geneviewrs727502821
scholarrs727502821
googlers727502821
pharmgkbrs727502821
gwascentralrs727502821
openSNPrs727502821
23andMers727502821
23andMe allrs727502821
SNP Nexus

SNPshotrs727502821
SNPdbers727502821
MSV3drs727502821
GWAS Ctlgrs727502821
Max Magnitude0
ClinVar
Risk rs727502821(G;G)
Alt rs727502821(G;G)
Reference rs727502821(A;A)
Significance Pathogenic
Disease Temple-Baraitser syndrome
Variation info
Gene KCNH1
CLNDBN Temple-Baraitser syndrome
Reversed 1
HGVS NC_000001.10:g.210977463T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000149912.3,