rs797045313

Orientation

minus

Stabilized

minus

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

Make rs797045313(-;-)

Make rs797045313(-;AAGT)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

197124104

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs797045313
dbSNP (classic)	rs797045313
ClinGen	rs797045313
ebi	rs797045313
HLI	rs797045313
Exac	rs797045313
Gnomad	rs797045313
Varsome	rs797045313
LitVar	rs797045313
Map	rs797045313
PheGenI	rs797045313
Biobank	rs797045313
1000 genomes	rs797045313
hgdp	rs797045313
ensembl	rs797045313
geneview	rs797045313
scholar	rs797045313
google	rs797045313
pharmgkb	rs797045313
gwascentral	rs797045313
openSNP	rs797045313
23andMe	rs797045313
SNPshot	rs797045313
SNPdbe	rs797045313
MSV3d	rs797045313
GWAS Ctlg	rs797045313

Max Magnitude

0

ClinVar
Risk	rs797045313(-;-)
Alt	rs797045313(-;-)
Reference	Rs797045313(AAGT;AAGT)
Significance	Pathogenic
Disease	Primary autosomal recessive microcephaly 5
Variation	info
Gene	ASPM
CLNDBN	Primary autosomal recessive microcephaly 5
Reversed	1
HGVS	NC_000001.10:g.197093234_197093237delACTT
CLNSRC
CLNACC	RCV000194147.1,