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rs886039904

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs886039904(-;-)
Make rs886039904(-;G)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position228157836
GeneGJC2
is asnp
is mentioned by
dbSNPrs886039904
dbSNP (classic)rs886039904
ClinGenrs886039904
ebirs886039904
HLIrs886039904
Exacrs886039904
Gnomadrs886039904
Varsomers886039904
LitVarrs886039904
Maprs886039904
PheGenIrs886039904
Biobankrs886039904
1000 genomesrs886039904
hgdprs886039904
ensemblrs886039904
geneviewrs886039904
scholarrs886039904
googlers886039904
pharmgkbrs886039904
gwascentralrs886039904
openSNPrs886039904
23andMers886039904
SNPshotrs886039904
SNPdbers886039904
MSV3drs886039904
GWAS Ctlgrs886039904
Max Magnitude0
ClinVar
Risk rs886039904(-;-)
Alt rs886039904(-;-)
Reference Rs886039904(G;G)
Significance Probable-Pathogenic
Disease Leukodystrophy
Variation info
Gene GJC2
CLNDBN Leukodystrophy, hypomyelinating, 2
Reversed 0
HGVS NC_000001.10:g.228345537delG
CLNSRC
CLNACC RCV000256421.1,