Have questions? Visit https://www.reddit.com/r/SNPedia

rs730882202

From SNPedia

Orientationplus
Geno Mag Summary
(TCT;TCT) 0 common in clinvar
Make rs730882202(-;-)
Make rs730882202(-;TTC)
Make rs730882202(TTC;TTC)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position50571958
GeneCACNA1G
is asnp
is mentioned by
dbSNPrs730882202
ebirs730882202
HLIrs730882202
Exacrs730882202
Varsomers730882202
Maprs730882202
PheGenIrs730882202
hapmaprs730882202
1000 genomesrs730882202
hgdprs730882202
ensemblrs730882202
gopubmedrs730882202
geneviewrs730882202
scholarrs730882202
googlers730882202
pharmgkbrs730882202
gwascentralrs730882202
openSNPrs730882202
23andMers730882202
23andMe allrs730882202
SNP Nexus

SNPshotrs730882202
SNPdbers730882202
MSV3drs730882202
GWAS Ctlgrs730882202
Max Magnitude0
ClinVar
Risk rs730882202(;)
Alt rs730882202(;)
Reference rs730882202(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,