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rs730882220

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730882220(C;T)
Make rs730882220(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position256001
GeneFAM20C
is asnp
is mentioned by
dbSNPrs730882220
ebirs730882220
HLIrs730882220
Exacrs730882220
Varsomers730882220
Maprs730882220
PheGenIrs730882220
hapmaprs730882220
1000 genomesrs730882220
hgdprs730882220
ensemblrs730882220
gopubmedrs730882220
geneviewrs730882220
scholarrs730882220
googlers730882220
pharmgkbrs730882220
gwascentralrs730882220
openSNPrs730882220
23andMers730882220
23andMe allrs730882220
SNP Nexus

SNPshotrs730882220
SNPdbers730882220
MSV3drs730882220
GWAS Ctlgrs730882220
Max Magnitude0
ClinVar
Risk rs730882220(T;T)
Alt rs730882220(T;T)
Reference rs730882220(C;C)
Significance Probable-Pathogenic
Disease Abnormal facial shape Cortical dysplasia Neonatal death Severe brain malformation
Variation info
Gene FAM20C
CLNDBN Abnormal facial shape Cortical dysplasia Neonatal death Severe brain malformation
Reversed 0
HGVS NC_000007.13:g.295967C>T
CLNSRC
CLNACC RCV000162130.1,