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rs104894909

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894909(C;T)
Make rs104894909(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position152858816
GeneNSDHL
is asnp
is mentioned by
dbSNPrs104894909
dbSNP (classic)rs104894909
ClinGenrs104894909
ebirs104894909
HLIrs104894909
Exacrs104894909
Gnomadrs104894909
Varsomers104894909
LitVarrs104894909
Maprs104894909
PheGenIrs104894909
Biobankrs104894909
1000 genomesrs104894909
hgdprs104894909
ensemblrs104894909
geneviewrs104894909
scholarrs104894909
googlers104894909
pharmgkbrs104894909
gwascentralrs104894909
openSNPrs104894909
23andMers104894909
SNPshotrs104894909
SNPdbers104894909
MSV3drs104894909
GWAS Ctlgrs104894909
Max Magnitude0
OMIM300275
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894909(T;T)
Alt rs104894909(T;T)
Reference Rs104894909(C;C)
Significance Pathogenic
Disease Child syndrome
Variation info
Gene NSDHL
CLNDBN Child syndrome
Reversed 0
HGVS NC_000023.10:g.152027360C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012179.11,