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rs796065027

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs796065027(-;-)
Make rs796065027(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position228158747
GeneGJC2
is asnp
is mentioned by
dbSNPrs796065027
ebirs796065027
HLIrs796065027
Exacrs796065027
Varsomers796065027
Maprs796065027
PheGenIrs796065027
hapmaprs796065027
1000 genomesrs796065027
hgdprs796065027
ensemblrs796065027
gopubmedrs796065027
geneviewrs796065027
scholarrs796065027
googlers796065027
pharmgkbrs796065027
gwascentralrs796065027
openSNPrs796065027
23andMers796065027
23andMe allrs796065027
SNP Nexus

SNPshotrs796065027
SNPdbers796065027
MSV3drs796065027
GWAS Ctlgrs796065027
Max Magnitude0
ClinVar
Risk rs796065027(;)
Alt rs796065027(;)
Reference rs796065027(C;C)
Significance Pathogenic
Disease Leukodystrophy
Variation info
Gene GJC2
CLNDBN Leukodystrophy, hypomyelinating, 2
Reversed 0
HGVS NC_000001.10:g.228346448delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000002154.3,