rs730882243

Orientation

plus

Stabilized

plus

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

Make rs730882243(-;-)

Make rs730882243(-;CCCTTGCGAATGAAAGATAATGATCTTCTTGTAACTGA)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

215602099

Gene

KCTD3

is a	snp
is	mentioned by
dbSNP	rs730882243
dbSNP (classic)	rs730882243
ClinGen	rs730882243
ebi	rs730882243
HLI	rs730882243
Exac	rs730882243
Gnomad	rs730882243
Varsome	rs730882243
LitVar	rs730882243
Map	rs730882243
PheGenI	rs730882243
Biobank	rs730882243
1000 genomes	rs730882243
hgdp	rs730882243
ensembl	rs730882243
geneview	rs730882243
scholar	rs730882243
google	rs730882243
pharmgkb	rs730882243
gwascentral	rs730882243
openSNP	rs730882243
23andMe	rs730882243
SNPshot	rs730882243
SNPdbe	rs730882243
MSV3d	rs730882243
GWAS Ctlg	rs730882243

Max Magnitude

0

ClinVar
Risk	rs730882243(-;-)
Alt	rs730882243(-;-)
Reference	Rs730882243(CCCTTGCGAATGAAAGATAATGATCTTCTTGTAACTGA;CCCTTGCGAATGAAAGATAATGATCTTCTTGTAACTGA)
Significance	Probable-Pathogenic
Disease	Cerebellar hypoplasia Seizures Severe global developmental delay
Variation	info
Gene	KCTD3
CLNDBN	Cerebellar hypoplasia Seizures Severe global developmental delay
Reversed	0
HGVS	NC_000001.10:g.215775441_215775478del38
CLNSRC	King Faisal Specialist Hospital and Research Center
CLNACC	RCV000162179.1,