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rs397704728

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397704728(G;T)
Make rs397704728(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position63492941
GeneWDPCP
is asnp
is mentioned by
dbSNPrs397704728
ebirs397704728
HLIrs397704728
Exacrs397704728
Varsomers397704728
Maprs397704728
PheGenIrs397704728
hapmaprs397704728
1000 genomesrs397704728
hgdprs397704728
ensemblrs397704728
gopubmedrs397704728
geneviewrs397704728
scholarrs397704728
googlers397704728
pharmgkbrs397704728
gwascentralrs397704728
openSNPrs397704728
23andMers397704728
23andMe allrs397704728
SNP Nexus

SNPshotrs397704728
SNPdbers397704728
MSV3drs397704728
GWAS Ctlgrs397704728
Max Magnitude0
ClinVar
Risk rs397704728(T;T)
Alt rs397704728(T;T)
Reference rs397704728(G;G)
Significance Pathogenic
Disease Bardet-Biedl syndrome 15
Variation info
Gene WDPCP
CLNDBN Bardet-Biedl syndrome 15
Reversed 1
HGVS NC_000002.11:g.63720075C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000062.6,