rs281865142

Orientation

minus

Stabilized

minus

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

Make rs281865142(-;-)

Make rs281865142(-;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

111908949

Gene

CRYAB

is a	snp
is	mentioned by
dbSNP	rs281865142
dbSNP (classic)	rs281865142
ClinGen	rs281865142
ebi	rs281865142
HLI	rs281865142
Exac	rs281865142
Gnomad	rs281865142
Varsome	rs281865142
LitVar	rs281865142
Map	rs281865142
PheGenI	rs281865142
Biobank	rs281865142
1000 genomes	rs281865142
hgdp	rs281865142
ensembl	rs281865142
geneview	rs281865142
scholar	rs281865142
google	rs281865142
pharmgkb	rs281865142
gwascentral	rs281865142
openSNP	rs281865142
23andMe	rs281865142
SNPshot	rs281865142
SNPdbe	rs281865142
MSV3d	rs281865142
GWAS Ctlg	rs281865142

Max Magnitude

0

ClinVar
Risk	rs281865142(-;-)
Alt	rs281865142(-;-)
Reference	Rs281865142(T;T)
Significance	Pathogenic
Disease	Alpha-B crystallinopathy not provided
Variation	info
Gene	CRYAB
CLNDBN	Alpha-B crystallinopathy not provided
Reversed	1
HGVS	NC_000011.9:g.111779673delA
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032215.1, RCV000183328.1,

[PMID 21130652] Infantile onset myofibrillar myopathy due to recessive CRYAB mutations.