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rs104894281

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894281(A;A)
Make rs104894281(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position119677734
GeneNECTIN1
is asnp
is mentioned by
dbSNPrs104894281
dbSNP (classic)rs104894281
ClinGenrs104894281
ebirs104894281
HLIrs104894281
Exacrs104894281
Gnomadrs104894281
Varsomers104894281
LitVarrs104894281
Maprs104894281
PheGenIrs104894281
Biobankrs104894281
1000 genomesrs104894281
hgdprs104894281
ensemblrs104894281
geneviewrs104894281
scholarrs104894281
googlers104894281
pharmgkbrs104894281
gwascentralrs104894281
openSNPrs104894281
23andMers104894281
SNPshotrs104894281
SNPdbers104894281
MSV3drs104894281
GWAS Ctlgrs104894281
Max Magnitude0
OMIM600644
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894281(A;A)
Alt rs104894281(A;A)
Reference Rs104894281(G;G)
Significance Pathogenic
Disease Cleft lip/palate-ectodermal dysplasia syndrome Orofacial cleft 7
Variation info
Gene NECTIN1
CLNDBN Cleft lip/palate-ectodermal dysplasia syndrome Orofacial cleft 7
Reversed 1
HGVS NC_000011.9:g.119548444C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009531.2, RCV000009532.4,