rs199422174

Orientation

minus

Stabilized

minus

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

Make rs199422174(-;-)

Make rs199422174(-;AG)

Make rs199422174(AG;AG)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197101391

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs199422174
dbSNP (classic)	rs199422174
ClinGen	rs199422174
ebi	rs199422174
HLI	rs199422174
Exac	rs199422174
Gnomad	rs199422174
Varsome	rs199422174
LitVar	rs199422174
Map	rs199422174
PheGenI	rs199422174
Biobank	rs199422174
1000 genomes	rs199422174
hgdp	rs199422174
ensembl	rs199422174
geneview	rs199422174
scholar	rs199422174
google	rs199422174
pharmgkb	rs199422174
gwascentral	rs199422174
openSNP	rs199422174
23andMe	rs199422174
SNPshot	rs199422174
SNPdbe	rs199422174
MSV3d	rs199422174
GWAS Ctlg	rs199422174

Max Magnitude

0

ClinVar
Risk	rs199422174(-;-)
Alt	rs199422174(-;-)
Reference	Rs199422174(GA;GA)
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.197070521_197070522delCT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020798.1,