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rs137852221

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852221(A;A)
Make rs137852221(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position43958512
GeneNDP
is asnp
is mentioned by
dbSNPrs137852221
ebirs137852221
HLIrs137852221
Exacrs137852221
Varsomers137852221
Maprs137852221
PheGenIrs137852221
hapmaprs137852221
1000 genomesrs137852221
hgdprs137852221
ensemblrs137852221
gopubmedrs137852221
geneviewrs137852221
scholarrs137852221
googlers137852221
pharmgkbrs137852221
gwascentralrs137852221
openSNPrs137852221
23andMers137852221
23andMe allrs137852221
SNP Nexus

SNPshotrs137852221
SNPdbers137852221
MSV3drs137852221
GWAS Ctlgrs137852221
Max Magnitude0
OMIM300658
Desc
Variant0019
Relatedalso
ClinVar
Risk rs137852221(A;A)
Alt rs137852221(A;A)
Reference rs137852221(T;T)
Significance Pathogenic
Disease Atrophia bulborum hereditaria
Variation info
Gene NDP
CLNDBN Atrophia bulborum hereditaria
Reversed 1
HGVS NC_000023.10:g.43817758A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011443.2,