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

rs730882172

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730882172(A;A)
Make rs730882172(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position210920047
GeneKCNH1
is asnp
is mentioned by
dbSNPrs730882172
ebirs730882172
HLIrs730882172
Exacrs730882172
Varsomers730882172
Maprs730882172
PheGenIrs730882172
hapmaprs730882172
1000 genomesrs730882172
hgdprs730882172
ensemblrs730882172
gopubmedrs730882172
geneviewrs730882172
scholarrs730882172
googlers730882172
pharmgkbrs730882172
gwascentralrs730882172
openSNPrs730882172
23andMers730882172
23andMe allrs730882172
SNP Nexus

SNPshotrs730882172
SNPdbers730882172
MSV3drs730882172
GWAS Ctlgrs730882172
Max Magnitude0
ClinVar
Risk rs730882172(A;A)
Alt rs730882172(A;A)
Reference rs730882172(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.211093389G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000185594.2, RCV000190322.1,