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rs104894901

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894901(A;A)
Make rs104894901(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position152865888
GeneNSDHL
is asnp
is mentioned by
dbSNPrs104894901
dbSNP (classic)rs104894901
ClinGenrs104894901
ebirs104894901
HLIrs104894901
Exacrs104894901
Gnomadrs104894901
Varsomers104894901
LitVarrs104894901
Maprs104894901
PheGenIrs104894901
Biobankrs104894901
1000 genomesrs104894901
hgdprs104894901
ensemblrs104894901
geneviewrs104894901
scholarrs104894901
googlers104894901
pharmgkbrs104894901
gwascentralrs104894901
openSNPrs104894901
23andMers104894901
SNPshotrs104894901
SNPdbers104894901
MSV3drs104894901
GWAS Ctlgrs104894901
Merged fromRs28935175
Max Magnitude0
OMIM300275
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894901(A;A)
Alt rs104894901(A;A)
Reference Rs104894901(G;G)
Significance Pathogenic
Disease Child syndrome
Variation info
Gene NSDHL
CLNDBN Child syndrome
Reversed 0
HGVS NC_000023.10:g.152034432G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012180.11,