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rs1057517352

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GTTTGT;GTTTGT) 0 common in clinvar
Make rs1057517352(-;-)
Make rs1057517352(-;GTTTGT)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position19657863
GeneALDH3A2
is asnp
is mentioned by
dbSNPrs1057517352
dbSNP (classic)rs1057517352
ClinGenrs1057517352
ebirs1057517352
HLIrs1057517352
Exacrs1057517352
Gnomadrs1057517352
Varsomers1057517352
LitVarrs1057517352
Maprs1057517352
PheGenIrs1057517352
Biobankrs1057517352
1000 genomesrs1057517352
hgdprs1057517352
ensemblrs1057517352
geneviewrs1057517352
scholarrs1057517352
googlers1057517352
pharmgkbrs1057517352
gwascentralrs1057517352
openSNPrs1057517352
23andMers1057517352
23andMe allrs1057517352
SNPshotrs1057517352
SNPdbers1057517352
MSV3drs1057517352
GWAS Ctlgrs1057517352
Max Magnitude0
ClinVar
Risk rs1057517352(-;-)
Alt rs1057517352(-;-)
Reference Rs1057517352(GTTTGT;GTTTGT)
Significance Probable-Pathogenic
Disease Sjögren-Larsson syndrome
Variation info
Gene ALDH3A2
CLNDBN Sjögren-Larsson syndrome
Reversed 0
HGVS NC_000017.10:g.19561176_19561181delGTTTGT
CLNSRC
CLNACC RCV000412363.1,