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rs1057517502

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517502(-;-)
Make rs1057517502(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position149980931
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs1057517502
dbSNP (old)rs1057517502
ClinGenrs1057517502
ebirs1057517502
HLIrs1057517502
Exacrs1057517502
Gnomadrs1057517502
Varsomers1057517502
Maprs1057517502
PheGenIrs1057517502
Biobankrs1057517502
1000 genomesrs1057517502
hgdprs1057517502
ensemblrs1057517502
gopubmedrs1057517502
geneviewrs1057517502
scholarrs1057517502
googlers1057517502
pharmgkbrs1057517502
gwascentralrs1057517502
openSNPrs1057517502
23andMers1057517502
23andMe allrs1057517502
SNPshotrs1057517502
SNPdbers1057517502
MSV3drs1057517502
GWAS Ctlgrs1057517502
Max Magnitude0
ClinVar
Risk rs1057517502(-;-)
Alt rs1057517502(-;-)
Reference Rs1057517502(A;A)
Significance Probable-Pathogenic
Disease Atelosteogenesis type 2 Achondrogenesis Diastrophic dysplasia Multiple epiphyseal dysplasia 4
Variation info
Gene SLC26A2
CLNDBN Atelosteogenesis type 2 Achondrogenesis, type IB Diastrophic dysplasia Multiple epiphyseal dysplasia 4
Reversed 0
HGVS NC_000005.9:g.149360494delA
CLNSRC
CLNACC RCV000409624.1, RCV000410772.1, RCV000411028.1, RCV000411621.1,