rs113993969

Orientation

plus

Stabilized

plus

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

Make rs113993969(A;A)

Make rs113993969(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

122506802

Gene

HTRA1

is a	snp
is	mentioned by
dbSNP	rs113993969
dbSNP (classic)	rs113993969
ClinGen	rs113993969
ebi	rs113993969
HLI	rs113993969
Exac	rs113993969
Gnomad	rs113993969
Varsome	rs113993969
LitVar	rs113993969
Map	rs113993969
PheGenI	rs113993969
Biobank	rs113993969
1000 genomes	rs113993969
hgdp	rs113993969
ensembl	rs113993969
geneview	rs113993969
scholar	rs113993969
google	rs113993969
pharmgkb	rs113993969
gwascentral	rs113993969
openSNP	rs113993969
23andMe	rs113993969
SNPshot	rs113993969
SNPdbe	rs113993969
MSV3d	rs113993969
GWAS Ctlg	rs113993969

Max Magnitude

0

OMIM	602194
Desc
Variant	0004
Related	also

ClinVar
Risk	rs113993969(A;A)
Alt	rs113993969(A;A)
Reference	Rs113993969(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.124266318G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000007918.7,

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