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rs483352919

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs483352919(A;G)
Make rs483352919(G;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position6625235
GeneDCHS1
is asnp
is mentioned by
dbSNPrs483352919
ebirs483352919
HLIrs483352919
Exacrs483352919
Varsomers483352919
Maprs483352919
PheGenIrs483352919
hapmaprs483352919
1000 genomesrs483352919
hgdprs483352919
ensemblrs483352919
gopubmedrs483352919
geneviewrs483352919
scholarrs483352919
googlers483352919
pharmgkbrs483352919
gwascentralrs483352919
openSNPrs483352919
23andMers483352919
23andMe allrs483352919
SNP Nexus

SNPshotrs483352919
SNPdbers483352919
MSV3drs483352919
GWAS Ctlgrs483352919
Max Magnitude0
ClinVar
Risk rs483352919(G,T;G,T)
Alt rs483352919(G,T;G,T)
Reference rs483352919(A;A)
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.6646466T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000074483.4,