rs1057519491

Orientation

minus

Stabilized

minus

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

Make rs1057519491(-;GGGCT)

Make rs1057519491(GGGCT;GGGCT)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

81671011

Gene

IMPA1

is a	snp
is	mentioned by
dbSNP	rs1057519491
dbSNP (classic)	rs1057519491
ClinGen	rs1057519491
ebi	rs1057519491
HLI	rs1057519491
Exac	rs1057519491
Gnomad	rs1057519491
Varsome	rs1057519491
LitVar	rs1057519491
Map	rs1057519491
PheGenI	rs1057519491
Biobank	rs1057519491
1000 genomes	rs1057519491
hgdp	rs1057519491
ensembl	rs1057519491
geneview	rs1057519491
scholar	rs1057519491
google	rs1057519491
pharmgkb	rs1057519491
gwascentral	rs1057519491
openSNP	rs1057519491
23andMe	rs1057519491
SNPshot	rs1057519491
SNPdbe	rs1057519491
MSV3d	rs1057519491
GWAS Ctlg	rs1057519491

Max Magnitude

0

ClinVar
Risk	rs1057519491(GGGCT;GGGCT)
Alt	rs1057519491(GGGCT;GGGCT)
Reference	Rs1057519491(-;-)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	IMPA1
CLNDBN	Mental retardation, autosomal recessive 59
Reversed	1
HGVS	NC_000008.10:g.82583247_82583251dupAGCCC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000416531.2,