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rs730880260

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs730880260(-;-)
Make rs730880260(-;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position161074705
GeneNECTIN4
is asnp
is mentioned by
dbSNPrs730880260
dbSNP (classic)rs730880260
ClinGenrs730880260
ebirs730880260
HLIrs730880260
Exacrs730880260
Gnomadrs730880260
Varsomers730880260
LitVarrs730880260
Maprs730880260
PheGenIrs730880260
Biobankrs730880260
1000 genomesrs730880260
hgdprs730880260
ensemblrs730880260
geneviewrs730880260
scholarrs730880260
googlers730880260
pharmgkbrs730880260
gwascentralrs730880260
openSNPrs730880260
23andMers730880260
SNPshotrs730880260
SNPdbers730880260
MSV3drs730880260
GWAS Ctlgrs730880260
Max Magnitude0
ClinVar
Risk rs730880260(-;-)
Alt rs730880260(-;-)
Reference Rs730880260(T;T)
Significance Pathogenic
Disease Ectodermal dysplasia-syndactyly syndrome 1
Variation info
Gene NECTIN4 PVRL4
CLNDBN Ectodermal dysplasia-syndactyly syndrome 1
Reversed 1
HGVS NC_000001.10:g.161044495delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000001669.4,