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rs1057517482

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517482(-;-)
Make rs1057517482(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position149981242
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs1057517482
dbSNP (old)rs1057517482
ClinGenrs1057517482
ebirs1057517482
HLIrs1057517482
Exacrs1057517482
Gnomadrs1057517482
Varsomers1057517482
Maprs1057517482
PheGenIrs1057517482
Biobankrs1057517482
1000 genomesrs1057517482
hgdprs1057517482
ensemblrs1057517482
gopubmedrs1057517482
geneviewrs1057517482
scholarrs1057517482
googlers1057517482
pharmgkbrs1057517482
gwascentralrs1057517482
openSNPrs1057517482
23andMers1057517482
23andMe allrs1057517482
SNPshotrs1057517482
SNPdbers1057517482
MSV3drs1057517482
GWAS Ctlgrs1057517482
Max Magnitude0
ClinVar
Risk rs1057517482(-;-)
Alt rs1057517482(-;-)
Reference Rs1057517482(A;A)
Significance Probable-Pathogenic
Disease Diastrophic dysplasia Achondrogenesis Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2
Variation info
Gene SLC26A2
CLNDBN Diastrophic dysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2
Reversed 0
HGVS NC_000005.9:g.149360805delA
CLNSRC
CLNACC RCV000409538.1, RCV000409746.1, RCV000411088.1, RCV000412144.1,