rs1057517676

Orientation

minus

Stabilized

minus

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

Make rs1057517676(C;C)

Make rs1057517676(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

74674964

Gene

EDC3

is a	snp
is	mentioned by
dbSNP	rs1057517676
dbSNP (classic)	rs1057517676
ClinGen	rs1057517676
ebi	rs1057517676
HLI	rs1057517676
Exac	rs1057517676
Gnomad	rs1057517676
Varsome	rs1057517676
LitVar	rs1057517676
Map	rs1057517676
PheGenI	rs1057517676
Biobank	rs1057517676
1000 genomes	rs1057517676
hgdp	rs1057517676
ensembl	rs1057517676
geneview	rs1057517676
scholar	rs1057517676
google	rs1057517676
pharmgkb	rs1057517676
gwascentral	rs1057517676
openSNP	rs1057517676
23andMe	rs1057517676
SNPshot	rs1057517676
SNPdbe	rs1057517676
MSV3d	rs1057517676
GWAS Ctlg	rs1057517676

Max Magnitude

0

ClinVar
Risk	rs1057517676(C;C)
Alt	rs1057517676(C;C)
Reference	Rs1057517676(T;T)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	EDC3
CLNDBN	Mental retardation, autosomal recessive 50
Reversed	1
HGVS	NC_000015.9:g.74967305A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000412560.1,