rs1064793348

minus

Geno	Mag	Summary
(-;TA)	5.2	Cerebral cavernous angioma associated mutation; variable penetrance
(TA;TA)	0	common in clinvar

Make rs1064793348(-;-)

Chromosome

7

Position

92213260

Gene

KRIT1

is a	snp
is	mentioned by
dbSNP	rs1064793348
dbSNP (classic)	rs1064793348
ClinGen	rs1064793348
ebi	rs1064793348
HLI	rs1064793348
Exac	rs1064793348
Gnomad	rs1064793348
Varsome	rs1064793348
LitVar	rs1064793348
Map	rs1064793348
PheGenI	rs1064793348
Biobank	rs1064793348
1000 genomes	rs1064793348
hgdp	rs1064793348
ensembl	rs1064793348
geneview	rs1064793348
scholar	rs1064793348
google	rs1064793348
pharmgkb	rs1064793348
gwascentral	rs1064793348
openSNP	rs1064793348
23andMe	rs1064793348
SNPshot	rs1064793348
SNPdbe	rs1064793348
MSV3d	rs1064793348
GWAS Ctlg	rs1064793348

Max Magnitude

5.2

aka c.1959_1960delTA (p.His653Glnfs); note that dbSNP indicates "refSNP cluster id(rs): rs1064793348 is an invalid snp_id value" even though it is listed in ClinVar and Ensembl

ClinVar
Risk	rs1064793348(-;-)
Alt	rs1064793348(-;-)
Reference	Rs1064793348(TA;TA)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	KRIT1
CLNDBN	not provided
Reversed	1
HGVS	NC_000007.13:g.91842574_91842575delTA
CLNSRC
CLNACC	RCV000478690.1,