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rs1028534806

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position17592721
GeneATP6V1E1
is asnp
is mentioned by
dbSNPrs1028534806
dbSNP (old)rs1028534806
ClinGenrs1028534806
ebirs1028534806
HLIrs1028534806
Exacrs1028534806
Gnomadrs1028534806
Varsomers1028534806
Maprs1028534806
PheGenIrs1028534806
Biobankrs1028534806
1000 genomesrs1028534806
hgdprs1028534806
ensemblrs1028534806
gopubmedrs1028534806
geneviewrs1028534806
scholarrs1028534806
googlers1028534806
pharmgkbrs1028534806
gwascentralrs1028534806
openSNPrs1028534806
23andMers1028534806
23andMe allrs1028534806
SNPshotrs1028534806
SNPdbers1028534806
MSV3drs1028534806
GWAS Ctlgrs1028534806
Max Magnitude0
ClinVar
Risk rs1028534806(A;A)
Alt rs1028534806(A;A)
Reference Rs1028534806(G;G)
Significance Pathogenic
Disease CUTIS LAXA
Variation info
Gene
CLNDBN CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC
Reversed 0
HGVS NC_000022.10:g.18075487G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000477738.1,