rs387907047

Orientation

plus

Stabilized

plus

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

Make rs387907047(C;G)

Make rs387907047(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

157367424

Gene

DNAJB6

is a	snp
is	mentioned by
dbSNP	rs387907047
dbSNP (classic)	rs387907047
ClinGen	rs387907047
ebi	rs387907047
HLI	rs387907047
Exac	rs387907047
Gnomad	rs387907047
Varsome	rs387907047
LitVar	rs387907047
Map	rs387907047
PheGenI	rs387907047
Biobank	rs387907047
1000 genomes	rs387907047
hgdp	rs387907047
ensembl	rs387907047
geneview	rs387907047
scholar	rs387907047
google	rs387907047
pharmgkb	rs387907047
gwascentral	rs387907047
openSNP	rs387907047
23andMe	rs387907047
SNPshot	rs387907047
SNPdbe	rs387907047
MSV3d	rs387907047
GWAS Ctlg	rs387907047

Max Magnitude

0

ClinVar
Risk	rs387907047(G;G)
Alt	rs387907047(G;G)
Reference	Rs387907047(C;C)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy
Variation	info
Gene	DNAJB6
CLNDBN	Limb-girdle muscular dystrophy, type 1E
Reversed	0
HGVS	NC_000007.13:g.157160118C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023892.3,