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rs104894615

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894615(C;C)
Make rs104894615(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position56594838
GeneNOG
is asnp
is mentioned by
dbSNPrs104894615
ebirs104894615
HLIrs104894615
Exacrs104894615
Varsomers104894615
Maprs104894615
PheGenIrs104894615
hapmaprs104894615
1000 genomesrs104894615
hgdprs104894615
ensemblrs104894615
gopubmedrs104894615
geneviewrs104894615
scholarrs104894615
googlers104894615
pharmgkbrs104894615
gwascentralrs104894615
openSNPrs104894615
23andMers104894615
23andMe allrs104894615
SNP Nexus

SNPshotrs104894615
SNPdbers104894615
MSV3drs104894615
GWAS Ctlgrs104894615
Max Magnitude0
OMIM602991
Desc
Variant0016
Relatedalso
ClinVar
Risk rs104894615(C;C)
Alt rs104894615(C;C)
Reference rs104894615(G;G)
Significance Pathogenic
Disease Symphalangism-brachydactyly syndrome
Variation info
Gene NOG
CLNDBN Symphalangism-brachydactyly syndrome
Reversed 0
HGVS NC_000017.10:g.54672199G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000007099.2,