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rs730882174

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730882174(A;A)
Make rs730882174(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position210919979
GeneKCNH1
is asnp
is mentioned by
dbSNPrs730882174
ebirs730882174
HLIrs730882174
Exacrs730882174
Varsomers730882174
Maprs730882174
PheGenIrs730882174
hapmaprs730882174
1000 genomesrs730882174
hgdprs730882174
ensemblrs730882174
gopubmedrs730882174
geneviewrs730882174
scholarrs730882174
googlers730882174
pharmgkbrs730882174
gwascentralrs730882174
openSNPrs730882174
23andMers730882174
23andMe allrs730882174
SNP Nexus

SNPshotrs730882174
SNPdbers730882174
MSV3drs730882174
GWAS Ctlgrs730882174
Max Magnitude0
ClinVar
Risk rs730882174(A;A)
Alt rs730882174(A;A)
Reference rs730882174(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.211093321C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000190319.2,