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rs786205629

From SNPedia

Orientationplus
Geno Mag Summary
(TCT;TCT) 0 common in clinvar
Make rs786205629(-;-)
Make rs786205629(-;TCT)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position50571953
GeneCACNA1G
is asnp
is mentioned by
dbSNPrs786205629
ebirs786205629
HLIrs786205629
Exacrs786205629
Varsomers786205629
Maprs786205629
PheGenIrs786205629
hapmaprs786205629
1000 genomesrs786205629
hgdprs786205629
ensemblrs786205629
gopubmedrs786205629
geneviewrs786205629
scholarrs786205629
googlers786205629
pharmgkbrs786205629
gwascentralrs786205629
openSNPrs786205629
23andMers786205629
23andMe allrs786205629
SNP Nexus

SNPshotrs786205629
SNPdbers786205629
MSV3drs786205629
GWAS Ctlgrs786205629
Max Magnitude0
ClinVar
Risk rs786205629(;)
Alt rs786205629(;)
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,