rs104894422

Orientation

plus

Stabilized

plus

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

Make rs104894422(A;A)

Make rs104894422(A;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

23324513

Gene	LOC107984585, SGCG

is a	snp
is	mentioned by
dbSNP	rs104894422
dbSNP (classic)	rs104894422
ClinGen	rs104894422
ebi	rs104894422
HLI	rs104894422
Exac	rs104894422
Gnomad	rs104894422
Varsome	rs104894422
LitVar	rs104894422
Map	rs104894422
PheGenI	rs104894422
Biobank	rs104894422
1000 genomes	rs104894422
hgdp	rs104894422
ensembl	rs104894422
geneview	rs104894422
scholar	rs104894422
google	rs104894422
pharmgkb	rs104894422
gwascentral	rs104894422
openSNP	rs104894422
23andMe	rs104894422
SNPshot	rs104894422
SNPdbe	rs104894422
MSV3d	rs104894422
GWAS Ctlg	rs104894422

Max Magnitude

0

OMIM	608896
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894422(A;A)
Alt	rs104894422(A;A)
Reference	Rs104894422(G;G)
Significance	Pathogenic
Disease	Severe autosomal recessive muscular dystrophy of childhood - North African type
Variation	info
Gene	SGCG
CLNDBN	Severe autosomal recessive muscular dystrophy of childhood - North African type
Reversed	0
HGVS	NC_000013.10:g.23898652G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002083.2,