rs730882210

Orientation

minus

Stabilized

minus

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

Make rs730882210(C;C)

Make rs730882210(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

20

Position

45304356

Gene

MATN4

is a	snp
is	mentioned by
dbSNP	rs730882210
dbSNP (classic)	rs730882210
ClinGen	rs730882210
ebi	rs730882210
HLI	rs730882210
Exac	rs730882210
Gnomad	rs730882210
Varsome	rs730882210
LitVar	rs730882210
Map	rs730882210
PheGenI	rs730882210
Biobank	rs730882210
1000 genomes	rs730882210
hgdp	rs730882210
ensembl	rs730882210
geneview	rs730882210
scholar	rs730882210
google	rs730882210
pharmgkb	rs730882210
gwascentral	rs730882210
openSNP	rs730882210
23andMe	rs730882210
SNPshot	rs730882210
SNPdbe	rs730882210
MSV3d	rs730882210
GWAS Ctlg	rs730882210

Max Magnitude

0

ClinVar
Risk	rs730882210(C;C)
Alt	rs730882210(C;C)
Reference	Rs730882210(G;G)
Significance	Probable-Pathogenic
Disease	Diabetes insipidus Global developmental delay Holoprosencephaly Lumbosacral myelomeningocele Microcephaly Proptosis Seizures
Variation	info
Gene	MATN4
CLNDBN	Diabetes insipidus Global developmental delay Holoprosencephaly Lumbosacral myelomeningocele Microcephaly Proptosis Seizures
Reversed	1
HGVS	NC_000020.10:g.43932996C>G
CLNSRC
CLNACC	RCV000162116.1,