rs2228387

minus

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

Make rs2228387(A;A)

Make rs2228387(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

111911560

Gene	CRYAB, HSPB2, HSPB2-C11orf52

is a	snp
is	mentioned by
dbSNP	rs2228387
dbSNP (classic)	rs2228387
ClinGen	rs2228387
ebi	rs2228387
HLI	rs2228387
Exac	rs2228387
Gnomad	rs2228387
Varsome	rs2228387
LitVar	rs2228387
Map	rs2228387
PheGenI	rs2228387
Biobank	rs2228387
1000 genomes	rs2228387
hgdp	rs2228387
ensembl	rs2228387
geneview	rs2228387
scholar	rs2228387
google	rs2228387
pharmgkb	rs2228387
gwascentral	rs2228387
openSNP	rs2228387
23andMe	rs2228387
SNPshot	rs2228387
SNPdbe	rs2228387
MSV3d	rs2228387
GWAS Ctlg	rs2228387

GMAF

0.008264

Max Magnitude

0

[PMID 21915251 ] Association of alpha B-crystallin genotypes with oral cancer susceptibility, survival, and recurrence in taiwan

[PMID 21980040] Association of Alpha B-Crystallin (CRYAB) Genotypes with Breast Cancer Susceptibility in Taiwan

[PMID 17601350 ] A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.

ClinVar
Risk	rs2228387(A;A) rs2228387(C;C)
Alt	rs2228387(A;A) rs2228387(C;C)
Reference	Rs2228387(G;G)
Significance	Non-pathogenic
Disease	not specified Dilated cardiomyopathy 1II Cardiovascular phenotype Alpha-B crystallinopathy Posterior polar cataract Myofibrillar Myopathy
Variation	info
Gene	HSPB2-C11orf52 HSPB2 CRYAB
CLNDBN	not specified Dilated cardiomyopathy 1II Cardiovascular phenotype Alpha-B crystallinopathy Posterior polar cataract Myofibrillar Myopathy, Dominant
Reversed	1
HGVS	NC_000011.9:g.111782284C>T
CLNSRC	ClinVar GeneDx
CLNACC	RCV000037212.4, RCV000205646.3, RCV000244212.1, RCV000265252.1, RCV000323760.1, RCV000378467.1,