Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894904

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894904(C;C)
Make rs104894904(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position152865819
GeneNSDHL
is asnp
is mentioned by
dbSNPrs104894904
ebirs104894904
HLIrs104894904
Exacrs104894904
Varsomers104894904
Maprs104894904
PheGenIrs104894904
hapmaprs104894904
1000 genomesrs104894904
hgdprs104894904
ensemblrs104894904
gopubmedrs104894904
geneviewrs104894904
scholarrs104894904
googlers104894904
pharmgkbrs104894904
gwascentralrs104894904
openSNPrs104894904
23andMers104894904
23andMe allrs104894904
SNP Nexus

SNPshotrs104894904
SNPdbers104894904
MSV3drs104894904
GWAS Ctlgrs104894904
Max Magnitude0
OMIM300275
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894904(C;C)
Alt rs104894904(C;C)
Reference rs104894904(G;G)
Significance Pathogenic
Disease Child syndrome
Variation info
Gene NSDHL
CLNDBN Child syndrome
Reversed 0
HGVS NC_000023.10:g.152034363G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012183.11,