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rs397515534

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397515534(A;C)
Make rs397515534(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position19989284
GeneLOC101928222, WDR35
is asnp
is mentioned by
dbSNPrs397515534
dbSNP (classic)rs397515534
ClinGenrs397515534
ebirs397515534
HLIrs397515534
Exacrs397515534
Gnomadrs397515534
Varsomers397515534
LitVarrs397515534
Maprs397515534
PheGenIrs397515534
Biobankrs397515534
1000 genomesrs397515534
hgdprs397515534
ensemblrs397515534
geneviewrs397515534
scholarrs397515534
googlers397515534
pharmgkbrs397515534
gwascentralrs397515534
openSNPrs397515534
23andMers397515534
SNPshotrs397515534
SNPdbers397515534
MSV3drs397515534
GWAS Ctlgrs397515534
Max Magnitude0
ClinVar
Risk rs397515534(C;C) rs397515534(G;G)
Alt rs397515534(C;C) rs397515534(G;G)
Reference Rs397515534(A;A)
Significance Pathogenic
Disease Cranioectodermal dysplasia 2
Variation info
Gene LOC101928222 WDR35
CLNDBN Cranioectodermal dysplasia 2
Reversed 1
HGVS NC_000002.11:g.20189045T>C; NC_000002.11:g.20189045T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000037.3, RCV000055832.1,