rs193251130

Orientation

plus

Stabilized

plus

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

Make rs193251130(G;G)

Make rs193251130(G;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197090947

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs193251130
dbSNP (classic)	rs193251130
ClinGen	rs193251130
ebi	rs193251130
HLI	rs193251130
Exac	rs193251130
Gnomad	rs193251130
Varsome	rs193251130
LitVar	rs193251130
Map	rs193251130
PheGenI	rs193251130
Biobank	rs193251130
1000 genomes	rs193251130
hgdp	rs193251130
ensembl	rs193251130
geneview	rs193251130
scholar	rs193251130
google	rs193251130
pharmgkb	rs193251130
gwascentral	rs193251130
openSNP	rs193251130
23andMe	rs193251130
SNPshot	rs193251130
SNPdbe	rs193251130
MSV3d	rs193251130
GWAS Ctlg	rs193251130

GMAF

0.0004591

Max Magnitude

0

ClinVar
Risk	rs193251130(G;G)
Alt	rs193251130(G;G)
Reference	Rs193251130(T;T)
Significance	Other
Disease	Primary autosomal recessive microcephaly 5 not specified Primary Microcephaly
Variation	info
Gene	ASPM
CLNDBN	Primary autosomal recessive microcephaly 5 not specified Primary Microcephaly, Recessive
Reversed	0
HGVS	NC_000001.10:g.197060077T>G
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000020818.3, RCV000152802.4, RCV000336179.1,