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rs730882177

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730882177(C;C)
Make rs730882177(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position20220320
GeneATP6V1B2
is asnp
is mentioned by
dbSNPrs730882177
ebirs730882177
HLIrs730882177
Exacrs730882177
Varsomers730882177
Maprs730882177
PheGenIrs730882177
hapmaprs730882177
1000 genomesrs730882177
hgdprs730882177
ensemblrs730882177
gopubmedrs730882177
geneviewrs730882177
scholarrs730882177
googlers730882177
pharmgkbrs730882177
gwascentralrs730882177
openSNPrs730882177
23andMers730882177
23andMe allrs730882177
SNP Nexus

SNPshotrs730882177
SNPdbers730882177
MSV3drs730882177
GWAS Ctlgrs730882177
Max Magnitude0
ClinVar
Risk rs730882177(C;C)
Alt rs730882177(C;C)
Reference rs730882177(G;G)
Significance Pathogenic
Disease Zimmermann-Laband syndrome 2 Zimmermann-Laband syndrome 1
Variation info
Gene ATP6V1B2
CLNDBN Zimmermann-Laband syndrome 2 Zimmermann-Laband syndrome 1
Reversed 0
HGVS NC_000008.10:g.20077831G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000185603.2, RCV000190318.1,