rs104894512

Orientation

minus

Stabilized

minus

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

Make rs104894512(A;C)

Make rs104894512(C;C)

Reference

GRCh38 38.1/141

Chromosome

16

Position

21258785

Gene	CRYM, LOC105371124

is a	snp
is	mentioned by
dbSNP	rs104894512
dbSNP (classic)	rs104894512
ClinGen	rs104894512
ebi	rs104894512
HLI	rs104894512
Exac	rs104894512
Gnomad	rs104894512
Varsome	rs104894512
LitVar	rs104894512
Map	rs104894512
PheGenI	rs104894512
Biobank	rs104894512
1000 genomes	rs104894512
hgdp	rs104894512
ensembl	rs104894512
geneview	rs104894512
scholar	rs104894512
google	rs104894512
pharmgkb	rs104894512
gwascentral	rs104894512
openSNP	rs104894512
23andMe	rs104894512
SNPshot	rs104894512
SNPdbe	rs104894512
MSV3d	rs104894512
GWAS Ctlg	rs104894512

Merged from

Rs28929490

Max Magnitude

0

OMIM	123740
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894512(C;C) rs104894512(G;G)
Alt	rs104894512(C;C) rs104894512(G;G)
Reference	Rs104894512(A;A)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	CRYM
CLNDBN	Deafness, autosomal dominant 40
Reversed	1
HGVS	NC_000016.9:g.21270106T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018443.28,