rs730882208

Orientation

minus

Stabilized

minus

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

Make rs730882208(-;GGGCGACGTCTTCAT)

Make rs730882208(GGGCGACGTCTTCAT;GGGCGACGTCTTCAT)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

1753572

Gene

CTSD

is a	snp
is	mentioned by
dbSNP	rs730882208
dbSNP (classic)	rs730882208
ClinGen	rs730882208
ebi	rs730882208
HLI	rs730882208
Exac	rs730882208
Gnomad	rs730882208
Varsome	rs730882208
LitVar	rs730882208
Map	rs730882208
PheGenI	rs730882208
Biobank	rs730882208
1000 genomes	rs730882208
hgdp	rs730882208
ensembl	rs730882208
geneview	rs730882208
scholar	rs730882208
google	rs730882208
pharmgkb	rs730882208
gwascentral	rs730882208
openSNP	rs730882208
23andMe	rs730882208
SNPshot	rs730882208
SNPdbe	rs730882208
MSV3d	rs730882208
GWAS Ctlg	rs730882208

Max Magnitude

0

ClinVar
Risk	rs730882208(GGGCGACGTCTTCAT;GGGCGACGTCTTCAT)
Alt	rs730882208(GGGCGACGTCTTCAT;GGGCGACGTCTTCAT)
Reference	Rs730882208(-;-)
Significance	Probable-Pathogenic
Disease	Exaggerated startle response Severe microlissencephaly
Variation	info
Gene	CTSD
CLNDBN	Exaggerated startle response Severe microlissencephaly
Reversed	1
HGVS	NC_000011.9:g.1774803_1774817dupATGAAGACGTCGCCC
CLNSRC	King Faisal Specialist Hospital and Research Center
CLNACC	RCV000162114.1,