rs397518474

Orientation

minus

Stabilized

minus

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

Make rs397518474(C;T)

Make rs397518474(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

28265707

Gene

HERC2

is a	snp
is	mentioned by
dbSNP	rs397518474
dbSNP (classic)	rs397518474
ClinGen	rs397518474
ebi	rs397518474
HLI	rs397518474
Exac	rs397518474
Gnomad	rs397518474
Varsome	rs397518474
LitVar	rs397518474
Map	rs397518474
PheGenI	rs397518474
Biobank	rs397518474
1000 genomes	rs397518474
hgdp	rs397518474
ensembl	rs397518474
geneview	rs397518474
scholar	rs397518474
google	rs397518474
pharmgkb	rs397518474
gwascentral	rs397518474
openSNP	rs397518474
23andMe	rs397518474
SNPshot	rs397518474
SNPdbe	rs397518474
MSV3d	rs397518474
GWAS Ctlg	rs397518474

Max Magnitude

0

ClinVar
Risk	rs397518474(T;T)
Alt	rs397518474(T;T)
Reference	Rs397518474(C;C)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	HERC2
CLNDBN	Mental retardation, autosomal recessive 38
Reversed	1
HGVS	NC_000015.9:g.28510853G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000074397.3,