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rs1057517495

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517495(-;-)
Make rs1057517495(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position149980515
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs1057517495
dbSNP (old)rs1057517495
ClinGenrs1057517495
ebirs1057517495
HLIrs1057517495
Exacrs1057517495
Gnomadrs1057517495
Varsomers1057517495
Maprs1057517495
PheGenIrs1057517495
Biobankrs1057517495
1000 genomesrs1057517495
hgdprs1057517495
ensemblrs1057517495
gopubmedrs1057517495
geneviewrs1057517495
scholarrs1057517495
googlers1057517495
pharmgkbrs1057517495
gwascentralrs1057517495
openSNPrs1057517495
23andMers1057517495
23andMe allrs1057517495
SNPshotrs1057517495
SNPdbers1057517495
MSV3drs1057517495
GWAS Ctlgrs1057517495
Max Magnitude0
ClinVar
Risk rs1057517495(-;-)
Alt rs1057517495(-;-)
Reference Rs1057517495(A;A)
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.149360078delA
CLNSRC
CLNACC RCV000409603.1, RCV000410472.1, RCV000410703.1, RCV000411979.1,