rs121918115

Orientation

plus

Stabilized

plus

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

Make rs121918115(C;T)

Make rs121918115(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

28902228

Gene

ATP2A1

is a	snp
is	mentioned by
dbSNP	rs121918115
dbSNP (classic)	rs121918115
ClinGen	rs121918115
ebi	rs121918115
HLI	rs121918115
Exac	rs121918115
Gnomad	rs121918115
Varsome	rs121918115
LitVar	rs121918115
Map	rs121918115
PheGenI	rs121918115
Biobank	rs121918115
1000 genomes	rs121918115
hgdp	rs121918115
ensembl	rs121918115
geneview	rs121918115
scholar	rs121918115
google	rs121918115
pharmgkb	rs121918115
gwascentral	rs121918115
openSNP	rs121918115
23andMe	rs121918115
SNPshot	rs121918115
SNPdbe	rs121918115
MSV3d	rs121918115
GWAS Ctlg	rs121918115

Max Magnitude

0

OMIM	108730
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121918115(T;T)
Alt	rs121918115(T;T)
Reference	Rs121918115(C;C)
Significance	Pathogenic
Disease	Brody myopathy
Variation	info
Gene	NPIPB8 ATP2A1
CLNDBN	Brody myopathy
Reversed	0
HGVS	NC_000016.9:g.28913549C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019384.25,