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rs1057517514

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517514(C;G)
Make rs1057517514(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position149980339
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs1057517514
dbSNP (old)rs1057517514
ClinGenrs1057517514
ebirs1057517514
HLIrs1057517514
Exacrs1057517514
Gnomadrs1057517514
Varsomers1057517514
Maprs1057517514
PheGenIrs1057517514
Biobankrs1057517514
1000 genomesrs1057517514
hgdprs1057517514
ensemblrs1057517514
gopubmedrs1057517514
geneviewrs1057517514
scholarrs1057517514
googlers1057517514
pharmgkbrs1057517514
gwascentralrs1057517514
openSNPrs1057517514
23andMers1057517514
23andMe allrs1057517514
SNPshotrs1057517514
SNPdbers1057517514
MSV3drs1057517514
GWAS Ctlgrs1057517514
Max Magnitude0
ClinVar
Risk rs1057517514(G;G)
Alt rs1057517514(G;G)
Reference Rs1057517514(C;C)
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.149359902C>G
CLNSRC
CLNACC RCV000409471.1, RCV000409703.1, RCV000410567.1, RCV000411690.1,