rs606231193

Orientation

minus

Stabilized

minus

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

Make rs606231193(-;CT)

Make rs606231193(CT;CT)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

48902400

Gene

PQBP1

is a	snp
is	mentioned by
dbSNP	rs606231193
dbSNP (classic)	rs606231193
ClinGen	rs606231193
ebi	rs606231193
HLI	rs606231193
Exac	rs606231193
Gnomad	rs606231193
Varsome	rs606231193
LitVar	rs606231193
Map	rs606231193
PheGenI	rs606231193
Biobank	rs606231193
1000 genomes	rs606231193
hgdp	rs606231193
ensembl	rs606231193
geneview	rs606231193
scholar	rs606231193
google	rs606231193
pharmgkb	rs606231193
gwascentral	rs606231193
openSNP	rs606231193
23andMe	rs606231193
SNPshot	rs606231193
SNPdbe	rs606231193
MSV3d	rs606231193
GWAS Ctlg	rs606231193

Max Magnitude

0

ClinVar
Risk	rs606231193(CT;CT)
Alt	rs606231193(CT;CT)
Reference	Rs606231193(-;-)
Significance	Pathogenic
Disease	Renpenning syndrome 1
Variation	info
Gene	PQBP1
CLNDBN	Renpenning syndrome 1
Reversed	1
HGVS	NC_000023.10:g.48759678_48759679dupAG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011726.6,