rs199422187

Orientation

minus

Stabilized

minus

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

Make rs199422187(C;T)

Make rs199422187(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197092032

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422187
dbSNP (classic)	rs199422187
ClinGen	rs199422187
ebi	rs199422187
HLI	rs199422187
Exac	rs199422187
Gnomad	rs199422187
Varsome	rs199422187
LitVar	rs199422187
Map	rs199422187
PheGenI	rs199422187
Biobank	rs199422187
1000 genomes	rs199422187
hgdp	rs199422187
ensembl	rs199422187
geneview	rs199422187
scholar	rs199422187
google	rs199422187
pharmgkb	rs199422187
gwascentral	rs199422187
openSNP	rs199422187
23andMe	rs199422187
SNPshot	rs199422187
SNPdbe	rs199422187
MSV3d	rs199422187
GWAS Ctlg	rs199422187

Max Magnitude

0

ClinVar
Risk	rs199422187(T;T)
Alt	rs199422187(T;T)
Reference	Rs199422187(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.197061162G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020813.1,