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rs796065029

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs796065029(-;-)
Make rs796065029(-;G)
Make rs796065029(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position228158453
GeneGJC2
is asnp
is mentioned by
dbSNPrs796065029
ebirs796065029
HLIrs796065029
Exacrs796065029
Varsomers796065029
Maprs796065029
PheGenIrs796065029
hapmaprs796065029
1000 genomesrs796065029
hgdprs796065029
ensemblrs796065029
gopubmedrs796065029
geneviewrs796065029
scholarrs796065029
googlers796065029
pharmgkbrs796065029
gwascentralrs796065029
openSNPrs796065029
23andMers796065029
23andMe allrs796065029
SNP Nexus

SNPshotrs796065029
SNPdbers796065029
MSV3drs796065029
GWAS Ctlgrs796065029
Max Magnitude0
ClinVar
Risk rs796065029(G;G)
Alt rs796065029(G;G)
Reference rs796065029(;)
Significance Pathogenic
Disease Leukodystrophy
Variation info
Gene GJC2
CLNDBN Leukodystrophy, hypomyelinating, 2
Reversed 0
HGVS NC_000001.10:g.228346154_228346155insG
CLNSRC OMIM Allelic Variant
CLNACC RCV000002158.4,