Rs104894872

From SNPedia
Jump to: navigation, search

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894872(C;C)
Make rs104894872(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position43949995
GeneNDP
is asnp
is mentioned by
dbSNPrs104894872
Exacrs104894872
PheGenIrs104894872
nextbiors104894872
hapmaprs104894872
1000 genomesrs104894872
hgdprs104894872
ensemblrs104894872
gopubmedrs104894872
geneviewrs104894872
scholarrs104894872
googlers104894872
pharmgkbrs104894872
gwascentralrs104894872
openSNPrs104894872
23andMers104894872
23andMe allrs104894872
SNP Nexus

SNPshotrs104894872
SNPdbers104894872
MSV3drs104894872
OMIM300658
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894872(C;C)
Alt rs104894872(C;C)
Reference rs104894872(G;G)
Significance Pathogenic
Disease Atrophia bulborum hereditaria
Variation info
Gene NDP
CLNDBN Atrophia bulborum hereditaria
Reversed 1
HGVS NC_000023.10:g.43809241C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011431.6,