rs730882076

Orientation

minus

Stabilized

minus

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

Make rs730882076(C;T)

Make rs730882076(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

197101153

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs730882076
dbSNP (classic)	rs730882076
ClinGen	rs730882076
ebi	rs730882076
HLI	rs730882076
Exac	rs730882076
Gnomad	rs730882076
Varsome	rs730882076
LitVar	rs730882076
Map	rs730882076
PheGenI	rs730882076
Biobank	rs730882076
1000 genomes	rs730882076
hgdp	rs730882076
ensembl	rs730882076
geneview	rs730882076
scholar	rs730882076
google	rs730882076
pharmgkb	rs730882076
gwascentral	rs730882076
openSNP	rs730882076
23andMe	rs730882076
SNPshot	rs730882076
SNPdbe	rs730882076
MSV3d	rs730882076
GWAS Ctlg	rs730882076

Max Magnitude

0

ClinVar
Risk	rs730882076(T;T)
Alt	rs730882076(T;T)
Reference	Rs730882076(C;C)
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.197070283G>A
CLNSRC
CLNACC	RCV000162061.1,