rs730882203

Orientation

plus

Stabilized

plus

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

Make rs730882203(C;T)

Make rs730882203(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

46510953

Gene

DMBX1

is a	snp
is	mentioned by
dbSNP	rs730882203
dbSNP (classic)	rs730882203
ClinGen	rs730882203
ebi	rs730882203
HLI	rs730882203
Exac	rs730882203
Gnomad	rs730882203
Varsome	rs730882203
LitVar	rs730882203
Map	rs730882203
PheGenI	rs730882203
Biobank	rs730882203
1000 genomes	rs730882203
hgdp	rs730882203
ensembl	rs730882203
geneview	rs730882203
scholar	rs730882203
google	rs730882203
pharmgkb	rs730882203
gwascentral	rs730882203
openSNP	rs730882203
23andMe	rs730882203
SNPshot	rs730882203
SNPdbe	rs730882203
MSV3d	rs730882203
GWAS Ctlg	rs730882203

Max Magnitude

0

ClinVar
Risk	rs730882203(T;T)
Alt	rs730882203(T;T)
Reference	Rs730882203(C;C)
Significance	Probable-Pathogenic
Disease	Global developmental delay Hearing impairment Hypermetropia Muscular hypotonia Seizures Strabismus
Variation	info
Gene	DMBX1
CLNDBN	Global developmental delay Hearing impairment Hypermetropia Muscular hypotonia Seizures Strabismus
Reversed	0
HGVS	NC_000001.10:g.46976625C>T
CLNSRC
CLNACC	RCV000162107.1,