rs730882219

Orientation

minus

Stabilized

minus

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

Make rs730882219(C;C)

Make rs730882219(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

745591

Gene

GEMIN4

is a	snp
is	mentioned by
dbSNP	rs730882219
dbSNP (classic)	rs730882219
ClinGen	rs730882219
ebi	rs730882219
HLI	rs730882219
Exac	rs730882219
Gnomad	rs730882219
Varsome	rs730882219
LitVar	rs730882219
Map	rs730882219
PheGenI	rs730882219
Biobank	rs730882219
1000 genomes	rs730882219
hgdp	rs730882219
ensembl	rs730882219
geneview	rs730882219
scholar	rs730882219
google	rs730882219
pharmgkb	rs730882219
gwascentral	rs730882219
openSNP	rs730882219
23andMe	rs730882219
SNPshot	rs730882219
SNPdbe	rs730882219
MSV3d	rs730882219
GWAS Ctlg	rs730882219

Max Magnitude

0

ClinVar
Risk	rs730882219(C;C)
Alt	rs730882219(C;C)
Reference	Rs730882219(T;T)
Significance	Probable-Pathogenic
Disease	Congenital cataract Global developmental delay Microcephaly Severe dystonia
Variation	info
Gene	GEMIN4
CLNDBN	Congenital cataract Global developmental delay Microcephaly Severe dystonia
Reversed	1
HGVS	NC_000017.10:g.648831A>G
CLNSRC
CLNACC	RCV000162129.1,