rs397516686

Orientation

minus

Stabilized

minus

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

Make rs397516686(A;A)

Make rs397516686(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

111911722

Gene	CRYAB, HSPB2, HSPB2-C11orf52

is a	snp
is	mentioned by
dbSNP	rs397516686
dbSNP (classic)	rs397516686
ClinGen	rs397516686
ebi	rs397516686
HLI	rs397516686
Exac	rs397516686
Gnomad	rs397516686
Varsome	rs397516686
LitVar	rs397516686
Map	rs397516686
PheGenI	rs397516686
Biobank	rs397516686
1000 genomes	rs397516686
hgdp	rs397516686
ensembl	rs397516686
geneview	rs397516686
scholar	rs397516686
google	rs397516686
pharmgkb	rs397516686
gwascentral	rs397516686
openSNP	rs397516686
23andMe	rs397516686
SNPshot	rs397516686
SNPdbe	rs397516686
MSV3d	rs397516686
GWAS Ctlg	rs397516686

Max Magnitude

0

ClinVar
Risk	rs397516686(A;A)
Alt	rs397516686(A;A)
Reference	Rs397516686(G;G)
Significance	Probable-Pathogenic
Disease	Myofibrillar myopathy
Variation	info
Gene	HSPB2-C11orf52 HSPB2 CRYAB
CLNDBN	Myofibrillar myopathy
Reversed	1
HGVS	NC_000011.9:g.111782446C>T
CLNSRC	ClinVar
CLNACC	RCV000037215.2,