rs192669225

Orientation

plus

Stabilized

plus

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

Make rs192669225(A;A)

Make rs192669225(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

109628692

Gene

AMPD2

is a	snp
is	mentioned by
dbSNP	rs192669225
dbSNP (classic)	rs192669225
ClinGen	rs192669225
ebi	rs192669225
HLI	rs192669225
Exac	rs192669225
Gnomad	rs192669225
Varsome	rs192669225
LitVar	rs192669225
Map	rs192669225
PheGenI	rs192669225
Biobank	rs192669225
1000 genomes	rs192669225
hgdp	rs192669225
ensembl	rs192669225
geneview	rs192669225
scholar	rs192669225
google	rs192669225
pharmgkb	rs192669225
gwascentral	rs192669225
openSNP	rs192669225
23andMe	rs192669225
SNPshot	rs192669225
SNPdbe	rs192669225
MSV3d	rs192669225
GWAS Ctlg	rs192669225

Max Magnitude

0

ClinVar
Risk	rs192669225(A;A)
Alt	rs192669225(A;A)
Reference	Rs192669225(G;G)
Significance	Probable-Pathogenic
Disease	Brain malformation Global developmental delay Seizures
Variation	info
Gene	AMPD2
CLNDBN	Brain malformation Global developmental delay Seizures
Reversed	0
HGVS	NC_000001.10:g.110171314G>A
CLNSRC
CLNACC	RCV000162110.1,