rs199422175

Orientation

minus

Stabilized

minus

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

Make rs199422175(C;T)

Make rs199422175(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197101357

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422175
dbSNP (classic)	rs199422175
ClinGen	rs199422175
ebi	rs199422175
HLI	rs199422175
Exac	rs199422175
Gnomad	rs199422175
Varsome	rs199422175
LitVar	rs199422175
Map	rs199422175
PheGenI	rs199422175
Biobank	rs199422175
1000 genomes	rs199422175
hgdp	rs199422175
ensembl	rs199422175
geneview	rs199422175
scholar	rs199422175
google	rs199422175
pharmgkb	rs199422175
gwascentral	rs199422175
openSNP	rs199422175
23andMe	rs199422175
SNPshot	rs199422175
SNPdbe	rs199422175
MSV3d	rs199422175
GWAS Ctlg	rs199422175

Max Magnitude

0

ClinVar
Risk	rs199422175(T;T)
Alt	rs199422175(T;T)
Reference	Rs199422175(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.197070487G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020800.1,