rs104894423

Orientation

plus

Stabilized

plus

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

Make rs104894423(A;A)

Make rs104894423(A;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

23324452

Gene	LOC107984585, SGCG

is a	snp
is	mentioned by
dbSNP	rs104894423
dbSNP (classic)	rs104894423
ClinGen	rs104894423
ebi	rs104894423
HLI	rs104894423
Exac	rs104894423
Gnomad	rs104894423
Varsome	rs104894423
LitVar	rs104894423
Map	rs104894423
PheGenI	rs104894423
Biobank	rs104894423
1000 genomes	rs104894423
hgdp	rs104894423
ensembl	rs104894423
geneview	rs104894423
scholar	rs104894423
google	rs104894423
pharmgkb	rs104894423
gwascentral	rs104894423
openSNP	rs104894423
23andMe	rs104894423
SNPshot	rs104894423
SNPdbe	rs104894423
MSV3d	rs104894423
GWAS Ctlg	rs104894423

Max Magnitude

0

OMIM	608896
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104894423(A;A)
Alt	rs104894423(A;A)
Reference	Rs104894423(G;G)
Significance	Pathogenic
Disease	Severe autosomal recessive muscular dystrophy of childhood - North African type not provided
Variation	info
Gene	SGCG
CLNDBN	Severe autosomal recessive muscular dystrophy of childhood - North African type not provided
Reversed	0
HGVS	NC_000013.10:g.23898591G>A
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000002086.4, RCV000078408.4,