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rs1057517530

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AACT;AACT) 0 common in clinvar
Make rs1057517530(-;-)
Make rs1057517530(-;AACT)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position149981399
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs1057517530
dbSNP (old)rs1057517530
ClinGenrs1057517530
ebirs1057517530
HLIrs1057517530
Exacrs1057517530
Gnomadrs1057517530
Varsomers1057517530
Maprs1057517530
PheGenIrs1057517530
Biobankrs1057517530
1000 genomesrs1057517530
hgdprs1057517530
ensemblrs1057517530
gopubmedrs1057517530
geneviewrs1057517530
scholarrs1057517530
googlers1057517530
pharmgkbrs1057517530
gwascentralrs1057517530
openSNPrs1057517530
23andMers1057517530
23andMe allrs1057517530
SNPshotrs1057517530
SNPdbers1057517530
MSV3drs1057517530
GWAS Ctlgrs1057517530
Max Magnitude0
ClinVar
Risk rs1057517530(-;-)
Alt rs1057517530(-;-)
Reference Rs1057517530(AACT;AACT)
Significance Probable-Pathogenic
Disease Atelosteogenesis type 2 Diastrophic dysplasia Achondrogenesis Multiple epiphyseal dysplasia 4
Variation info
Gene SLC26A2
CLNDBN Atelosteogenesis type 2 Diastrophic dysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia 4
Reversed 0
HGVS NC_000005.9:g.149360962_149360965delAACT
CLNSRC
CLNACC RCV000409656.1, RCV000410954.1, RCV000411101.1, RCV000412069.1,