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rs104894905

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894905(G;T)
Make rs104894905(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position152862632
GeneNSDHL
is asnp
is mentioned by
dbSNPrs104894905
dbSNP (classic)rs104894905
ClinGenrs104894905
ebirs104894905
HLIrs104894905
Exacrs104894905
Gnomadrs104894905
Varsomers104894905
LitVarrs104894905
Maprs104894905
PheGenIrs104894905
Biobankrs104894905
1000 genomesrs104894905
hgdprs104894905
ensemblrs104894905
geneviewrs104894905
scholarrs104894905
googlers104894905
pharmgkbrs104894905
gwascentralrs104894905
openSNPrs104894905
23andMers104894905
SNPshotrs104894905
SNPdbers104894905
MSV3drs104894905
GWAS Ctlgrs104894905
Max Magnitude0
OMIM300275
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894905(T;T)
Alt rs104894905(T;T)
Reference Rs104894905(G;G)
Significance Pathogenic
Disease Child syndrome
Variation info
Gene NSDHL
CLNDBN Child syndrome
Reversed 0
HGVS NC_000023.10:g.152031176G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012184.11,