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rs1057517532

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517532(G;T)
Make rs1057517532(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position149980653
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs1057517532
dbSNP (old)rs1057517532
ClinGenrs1057517532
ebirs1057517532
HLIrs1057517532
Exacrs1057517532
Gnomadrs1057517532
Varsomers1057517532
LitVarrs1057517532
Maprs1057517532
PheGenIrs1057517532
Biobankrs1057517532
1000 genomesrs1057517532
hgdprs1057517532
ensemblrs1057517532
gopubmedrs1057517532
geneviewrs1057517532
scholarrs1057517532
googlers1057517532
pharmgkbrs1057517532
gwascentralrs1057517532
openSNPrs1057517532
23andMers1057517532
23andMe allrs1057517532
SNPshotrs1057517532
SNPdbers1057517532
MSV3drs1057517532
GWAS Ctlgrs1057517532
Max Magnitude0
ClinVar
Risk rs1057517532(T;T)
Alt rs1057517532(T;T)
Reference Rs1057517532(G;G)
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.149360216G>T
CLNSRC
CLNACC RCV000409259.1, RCV000410391.1, RCV000410579.1, RCV000411229.1,