rs786205629

Merged into

rs730882202

Orientation

plus

Stabilized

plus

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

Make rs786205629(-;-)

Make rs786205629(-;TCT)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

50571953

Gene

CACNA1G

is a	snp
is	mentioned by
dbSNP	rs786205629
dbSNP (classic)	rs786205629
ClinGen	rs786205629
ebi	rs786205629
HLI	rs786205629
Exac	rs786205629
Gnomad	rs786205629
Varsome	rs786205629
LitVar	rs786205629
Map	rs786205629
PheGenI	rs786205629
Biobank	rs786205629
1000 genomes	rs786205629
hgdp	rs786205629
ensembl	rs786205629
geneview	rs786205629
scholar	rs786205629
google	rs786205629
pharmgkb	rs786205629
gwascentral	rs786205629
openSNP	rs786205629
23andMe	rs786205629
SNPshot	rs786205629
SNPdbe	rs786205629
MSV3d	rs786205629
GWAS Ctlg	rs786205629

Status

Merged into rs730882202

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs786205629(TCT;TCT)
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,