rs730882202

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(I;I)	0	common genotype
(TCT;TCT)	0	common in clinvar
(TTC;TTC)	0	common in clinvar

Make rs730882202(-;-)

Make rs730882202(-;TTC)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

50571958

Gene

CACNA1G

is a	snp
is	mentioned by
dbSNP	rs730882202
dbSNP (classic)	rs730882202
ClinGen	rs730882202
ebi	rs730882202
HLI	rs730882202
Exac	rs730882202
Gnomad	rs730882202
Varsome	rs730882202
LitVar	rs730882202
Map	rs730882202
PheGenI	rs730882202
Biobank	rs730882202
1000 genomes	rs730882202
hgdp	rs730882202
ensembl	rs730882202
geneview	rs730882202
scholar	rs730882202
google	rs730882202
pharmgkb	rs730882202
gwascentral	rs730882202
openSNP	rs730882202
23andMe	rs730882202
SNPshot	rs730882202
SNPdbe	rs730882202
MSV3d	rs730882202
GWAS Ctlg	rs730882202

Merged from

Rs786205629

Max Magnitude

0

ClinVar
Risk	rs730882202(-;-) Rs730882202(TCT;TCT)
Alt	rs730882202(-;-) Rs730882202(TCT;TCT)
Reference	Rs730882202(TTC;TTC)
Significance	Probable-Pathogenic
Disease	Abnormal facial shape Abnormality of the skeletal system Hirsutism Intellectual disability not provided
Variation	info
Gene	CACNA1G
CLNDBN	Abnormal facial shape Abnormality of the skeletal system Hirsutism Intellectual disability, severe not provided
Reversed	0
HGVS	NC_000017.10:g.48649319_48649321delTTC
CLNSRC
CLNACC	RCV000162106.1, RCV000171486.1,