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rs1057518836

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518836(C;T)
Make rs1057518836(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position43949887
GeneNDP
is asnp
is mentioned by
dbSNPrs1057518836
dbSNP (classic)rs1057518836
ClinGenrs1057518836
ebirs1057518836
HLIrs1057518836
Exacrs1057518836
Gnomadrs1057518836
Varsomers1057518836
LitVarrs1057518836
Maprs1057518836
PheGenIrs1057518836
Biobankrs1057518836
1000 genomesrs1057518836
hgdprs1057518836
ensemblrs1057518836
geneviewrs1057518836
scholarrs1057518836
googlers1057518836
pharmgkbrs1057518836
gwascentralrs1057518836
openSNPrs1057518836
23andMers1057518836
SNPshotrs1057518836
SNPdbers1057518836
MSV3drs1057518836
GWAS Ctlgrs1057518836
Max Magnitude0
ClinVar
Risk rs1057518836(T;T)
Alt rs1057518836(T;T)
Reference Rs1057518836(C;C)
Significance Probable-Pathogenic
Disease Nystagmus Remnants of the hyaloid vascular system Severe Myopia Short lingual frenulum
Variation info
Gene NDP
CLNDBN Nystagmus Remnants of the hyaloid vascular system Severe Myopia Short lingual frenulum
Reversed 1
HGVS NC_000023.10:g.43809133G>A
CLNSRC
CLNACC RCV000415329.1,