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rs483352918

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs483352918(-;-)
Make rs483352918(-;C)
ReferenceGRCh38 38.1/142
Chromosome11
Position6632969
GeneDCHS1
is asnp
is mentioned by
dbSNPrs483352918
ebirs483352918
HLIrs483352918
Exacrs483352918
Varsomers483352918
Maprs483352918
PheGenIrs483352918
hapmaprs483352918
1000 genomesrs483352918
hgdprs483352918
ensemblrs483352918
gopubmedrs483352918
geneviewrs483352918
scholarrs483352918
googlers483352918
pharmgkbrs483352918
gwascentralrs483352918
openSNPrs483352918
23andMers483352918
23andMe allrs483352918
SNP Nexus

SNPshotrs483352918
SNPdbers483352918
MSV3drs483352918
GWAS Ctlgrs483352918
Max Magnitude0
ClinVar
Risk rs483352918(;)
Alt rs483352918(;)
Reference rs483352918(C;C)
Significance Pathogenic
Disease Van Maldergem Wetzburger Verloes syndrome
Variation info
Gene DCHS1
CLNDBN Van Maldergem Wetzburger Verloes syndrome
Reversed 1
HGVS NC_000011.9:g.6654200delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000074482.4,