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rs730882175

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730882175(A;A)
Make rs730882175(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position210804143
GeneKCNH1
is asnp
is mentioned by
dbSNPrs730882175
ebirs730882175
HLIrs730882175
Exacrs730882175
Varsomers730882175
Maprs730882175
PheGenIrs730882175
hapmaprs730882175
1000 genomesrs730882175
hgdprs730882175
ensemblrs730882175
gopubmedrs730882175
geneviewrs730882175
scholarrs730882175
googlers730882175
pharmgkbrs730882175
gwascentralrs730882175
openSNPrs730882175
23andMers730882175
23andMe allrs730882175
SNP Nexus

SNPshotrs730882175
SNPdbers730882175
MSV3drs730882175
GWAS Ctlgrs730882175
Max Magnitude0
ClinVar
Risk rs730882175(A;A)
Alt rs730882175(A;A)
Reference rs730882175(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.210977485C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000190321.2,