rs199422185

Orientation

minus

Stabilized

minus

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

Make rs199422185(C;T)

Make rs199422185(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197093156

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422185
dbSNP (classic)	rs199422185
ClinGen	rs199422185
ebi	rs199422185
HLI	rs199422185
Exac	rs199422185
Gnomad	rs199422185
Varsome	rs199422185
LitVar	rs199422185
Map	rs199422185
PheGenI	rs199422185
Biobank	rs199422185
1000 genomes	rs199422185
hgdp	rs199422185
ensembl	rs199422185
geneview	rs199422185
scholar	rs199422185
google	rs199422185
pharmgkb	rs199422185
gwascentral	rs199422185
openSNP	rs199422185
23andMe	rs199422185
SNPshot	rs199422185
SNPdbe	rs199422185
MSV3d	rs199422185
GWAS Ctlg	rs199422185

Max Magnitude

0

ClinVar
Risk	rs199422185(T;T)
Alt	rs199422185(T;T)
Reference	Rs199422185(C;C)
Significance	Pathogenic
Disease	Primary autosomal recessive microcephaly 5 not provided
Variation	info
Gene	ASPM
CLNDBN	Primary autosomal recessive microcephaly 5 not provided
Reversed	1
HGVS	NC_000001.10:g.197062286G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020811.1, RCV000219573.1,