rs148294838

Orientation

plus

Stabilized

plus

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

Make rs148294838(G;T)

Make rs148294838(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197104115

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs148294838
dbSNP (classic)	rs148294838
ClinGen	rs148294838
ebi	rs148294838
HLI	rs148294838
Exac	rs148294838
Gnomad	rs148294838
Varsome	rs148294838
LitVar	rs148294838
Map	rs148294838
PheGenI	rs148294838
Biobank	rs148294838
1000 genomes	rs148294838
hgdp	rs148294838
ensembl	rs148294838
geneview	rs148294838
scholar	rs148294838
google	rs148294838
pharmgkb	rs148294838
gwascentral	rs148294838
openSNP	rs148294838
23andMe	rs148294838
SNPshot	rs148294838
SNPdbe	rs148294838
MSV3d	rs148294838
GWAS Ctlg	rs148294838

Max Magnitude

0

ClinVar
Risk	rs148294838(T;T)
Alt	rs148294838(T;T)
Reference	Rs148294838(G;G)
Significance	Pathogenic
Disease	Primary autosomal recessive microcephaly 5
Variation	info
Gene	ASPM
CLNDBN	Primary autosomal recessive microcephaly 5
Reversed	0
HGVS	NC_000001.10:g.197073245G>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020780.1,