rs113993968

Orientation

plus

Stabilized

plus

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

Make rs113993968(A;A)

Make rs113993968(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

122489603

Gene	HTRA1, LOC105378526

is a	snp
is	mentioned by
dbSNP	rs113993968
dbSNP (classic)	rs113993968
ClinGen	rs113993968
ebi	rs113993968
HLI	rs113993968
Exac	rs113993968
Gnomad	rs113993968
Varsome	rs113993968
LitVar	rs113993968
Map	rs113993968
PheGenI	rs113993968
Biobank	rs113993968
1000 genomes	rs113993968
hgdp	rs113993968
ensembl	rs113993968
geneview	rs113993968
scholar	rs113993968
google	rs113993968
pharmgkb	rs113993968
gwascentral	rs113993968
openSNP	rs113993968
23andMe	rs113993968
SNPshot	rs113993968
SNPdbe	rs113993968
MSV3d	rs113993968
GWAS Ctlg	rs113993968

Max Magnitude

0

OMIM	602194
Desc
Variant	0005
Related	also

ClinVar
Risk	rs113993968(A;A)
Alt	rs113993968(A;A)
Reference	Rs113993968(G;G)
Significance	Pathogenic
Disease	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Variation	info
Gene	HTRA1
CLNDBN	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Reversed	0
HGVS	NC_000010.10:g.124249119G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000007919.7,

[PMID 19387015] Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.