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rs1057518793

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518793(C;T)
Make rs1057518793(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position43949933
GeneNDP
is asnp
is mentioned by
dbSNPrs1057518793
dbSNP (classic)rs1057518793
ClinGenrs1057518793
ebirs1057518793
HLIrs1057518793
Exacrs1057518793
Gnomadrs1057518793
Varsomers1057518793
LitVarrs1057518793
Maprs1057518793
PheGenIrs1057518793
Biobankrs1057518793
1000 genomesrs1057518793
hgdprs1057518793
ensemblrs1057518793
geneviewrs1057518793
scholarrs1057518793
googlers1057518793
pharmgkbrs1057518793
gwascentralrs1057518793
openSNPrs1057518793
23andMers1057518793
23andMe allrs1057518793
SNPshotrs1057518793
SNPdbers1057518793
MSV3drs1057518793
GWAS Ctlgrs1057518793
Max Magnitude0
ClinVar
Risk rs1057518793(T;T)
Alt rs1057518793(T;T)
Reference Rs1057518793(C;C)
Significance Probable-Pathogenic
Disease Atrophia bulborum hereditaria
Variation info
Gene NDP
CLNDBN Atrophia bulborum hereditaria
Reversed 1
HGVS NC_000023.10:g.43809179G>A
CLNSRC
CLNACC RCV000415091.1,