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rs1057517462

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517462(-;-)
Make rs1057517462(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position149977859
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs1057517462
dbSNP (old)rs1057517462
ClinGenrs1057517462
ebirs1057517462
HLIrs1057517462
Exacrs1057517462
Gnomadrs1057517462
Varsomers1057517462
Maprs1057517462
PheGenIrs1057517462
Biobankrs1057517462
1000 genomesrs1057517462
hgdprs1057517462
ensemblrs1057517462
gopubmedrs1057517462
geneviewrs1057517462
scholarrs1057517462
googlers1057517462
pharmgkbrs1057517462
gwascentralrs1057517462
openSNPrs1057517462
23andMers1057517462
23andMe allrs1057517462
SNPshotrs1057517462
SNPdbers1057517462
MSV3drs1057517462
GWAS Ctlgrs1057517462
Max Magnitude0
ClinVar
Risk rs1057517462(-;-)
Alt rs1057517462(-;-)
Reference Rs1057517462(T;T)
Significance Probable-Pathogenic
Disease Achondrogenesis Diastrophic dysplasia Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2
Variation info
Gene SLC26A2
CLNDBN Achondrogenesis, type IB Diastrophic dysplasia Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2
Reversed 0
HGVS NC_000005.9:g.149357422delT
CLNSRC
CLNACC RCV000409102.1, RCV000409375.1, RCV000410474.1, RCV000411549.1,