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rs730882176

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730882176(C;G)
Make rs730882176(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position210919967
GeneKCNH1
is asnp
is mentioned by
dbSNPrs730882176
ebirs730882176
HLIrs730882176
Exacrs730882176
Varsomers730882176
Maprs730882176
PheGenIrs730882176
hapmaprs730882176
1000 genomesrs730882176
hgdprs730882176
ensemblrs730882176
gopubmedrs730882176
geneviewrs730882176
scholarrs730882176
googlers730882176
pharmgkbrs730882176
gwascentralrs730882176
openSNPrs730882176
23andMers730882176
23andMe allrs730882176
SNP Nexus

SNPshotrs730882176
SNPdbers730882176
MSV3drs730882176
GWAS Ctlgrs730882176
Max Magnitude0
ClinVar
Risk rs730882176(G;G)
Alt rs730882176(G;G)
Reference rs730882176(C;C)
Significance Pathogenic
Disease Zimmermann-Laband syndrome 1
Variation info
Gene KCNH1
CLNDBN Zimmermann-Laband syndrome 1
Reversed 1
HGVS NC_000001.10:g.211093309G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000185592.3,