rs774005569

Orientation

plus

Stabilized

plus

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

Make rs774005569(A;A)

Make rs774005569(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

11

Position

125893928

Gene	HYLS1, PUS3

is a	snp
is	mentioned by
dbSNP	rs774005569
dbSNP (classic)	rs774005569
ClinGen	rs774005569
ebi	rs774005569
HLI	rs774005569
Exac	rs774005569
Gnomad	rs774005569
Varsome	rs774005569
LitVar	rs774005569
Map	rs774005569
PheGenI	rs774005569
Biobank	rs774005569
1000 genomes	rs774005569
hgdp	rs774005569
ensembl	rs774005569
geneview	rs774005569
scholar	rs774005569
google	rs774005569
pharmgkb	rs774005569
gwascentral	rs774005569
openSNP	rs774005569
23andMe	rs774005569
SNPshot	rs774005569
SNPdbe	rs774005569
MSV3d	rs774005569
GWAS Ctlg	rs774005569

Max Magnitude

0

ClinVar
Risk	rs774005569(A;A)
Alt	rs774005569(A;A)
Reference	Rs774005569(G;G)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	PUS3 HYLS1
CLNDBN	Mental retardation, autosomal recessive 55
Reversed	0
HGVS	NC_000011.9:g.125763823G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000239585.1,