Have questions? Visit https://www.reddit.com/r/SNPedia

rs730882173

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730882173(C;C)
Make rs730882173(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position210919955
GeneKCNH1
is asnp
is mentioned by
dbSNPrs730882173
ebirs730882173
HLIrs730882173
Exacrs730882173
Varsomers730882173
Maprs730882173
PheGenIrs730882173
hapmaprs730882173
1000 genomesrs730882173
hgdprs730882173
ensemblrs730882173
gopubmedrs730882173
geneviewrs730882173
scholarrs730882173
googlers730882173
pharmgkbrs730882173
gwascentralrs730882173
openSNPrs730882173
23andMers730882173
23andMe allrs730882173
SNP Nexus

SNPshotrs730882173
SNPdbers730882173
MSV3drs730882173
GWAS Ctlgrs730882173
Max Magnitude0
ClinVar
Risk rs730882173(C;C)
Alt rs730882173(C;C)
Reference rs730882173(G;G)
Significance Pathogenic
Disease Zimmermann-Laband syndrome 1
Variation info
Gene KCNH1
CLNDBN Zimmermann-Laband syndrome 1
Reversed 1
HGVS NC_000001.10:g.211093297C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000185594.2, RCV000190320.1,