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rs1057517513

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs1057517513(-;-)
Make rs1057517513(-;AC)
Make rs1057517513(AC;AC)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position149981591
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs1057517513
dbSNP (classic)rs1057517513
ClinGenrs1057517513
ebirs1057517513
HLIrs1057517513
Exacrs1057517513
Gnomadrs1057517513
Varsomers1057517513
LitVarrs1057517513
Maprs1057517513
PheGenIrs1057517513
Biobankrs1057517513
1000 genomesrs1057517513
hgdprs1057517513
ensemblrs1057517513
geneviewrs1057517513
scholarrs1057517513
googlers1057517513
pharmgkbrs1057517513
gwascentralrs1057517513
openSNPrs1057517513
23andMers1057517513
23andMe allrs1057517513
SNPshotrs1057517513
SNPdbers1057517513
MSV3drs1057517513
GWAS Ctlgrs1057517513
Max Magnitude0
ClinVar
Risk rs1057517513(-;-)
Alt rs1057517513(-;-)
Reference Rs1057517513(CA;CA)
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.149361154_149361155delAC
CLNSRC
CLNACC RCV000409121.1, RCV000410103.1, RCV000410720.1, RCV000411563.1,