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rs483352917

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs483352917(G;T)
Make rs483352917(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position6633009
GeneDCHS1
is asnp
is mentioned by
dbSNPrs483352917
ebirs483352917
HLIrs483352917
Exacrs483352917
Varsomers483352917
Maprs483352917
PheGenIrs483352917
hapmaprs483352917
1000 genomesrs483352917
hgdprs483352917
ensemblrs483352917
gopubmedrs483352917
geneviewrs483352917
scholarrs483352917
googlers483352917
pharmgkbrs483352917
gwascentralrs483352917
openSNPrs483352917
23andMers483352917
23andMe allrs483352917
SNP Nexus

SNPshotrs483352917
SNPdbers483352917
MSV3drs483352917
GWAS Ctlgrs483352917
Max Magnitude0
ClinVar
Risk rs483352917(T;T)
Alt rs483352917(T;T)
Reference rs483352917(G;G)
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.6654240C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000074481.3,