rs730882177

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs730882177(C;C)

Make rs730882177(C;G)

Reference

GRCh38.p2 38.2/146

Chromosome

8

Position

20220320

Gene

ATP6V1B2

is a	snp
is	mentioned by
dbSNP	rs730882177
dbSNP (classic)	rs730882177
ClinGen	rs730882177
ebi	rs730882177
HLI	rs730882177
Exac	rs730882177
Gnomad	rs730882177
Varsome	rs730882177
LitVar	rs730882177
Map	rs730882177
PheGenI	rs730882177
Biobank	rs730882177
1000 genomes	rs730882177
hgdp	rs730882177
ensembl	rs730882177
geneview	rs730882177
scholar	rs730882177
google	rs730882177
pharmgkb	rs730882177
gwascentral	rs730882177
openSNP	rs730882177
23andMe	rs730882177
SNPshot	rs730882177
SNPdbe	rs730882177
MSV3d	rs730882177
GWAS Ctlg	rs730882177

Max Magnitude

0

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 UniProtKB (protein)
CLNACC	RCV000185603.3, RCV000190318.1,