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rs1057517461

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517461(C;C)
Make rs1057517461(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position149978353
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs1057517461
dbSNP (old)rs1057517461
ClinGenrs1057517461
ebirs1057517461
HLIrs1057517461
Exacrs1057517461
Gnomadrs1057517461
Varsomers1057517461
Maprs1057517461
PheGenIrs1057517461
Biobankrs1057517461
1000 genomesrs1057517461
hgdprs1057517461
ensemblrs1057517461
gopubmedrs1057517461
geneviewrs1057517461
scholarrs1057517461
googlers1057517461
pharmgkbrs1057517461
gwascentralrs1057517461
openSNPrs1057517461
23andMers1057517461
23andMe allrs1057517461
SNPshotrs1057517461
SNPdbers1057517461
MSV3drs1057517461
GWAS Ctlgrs1057517461
Max Magnitude0
ClinVar
Risk rs1057517461(C;C)
Alt rs1057517461(C;C)
Reference Rs1057517461(T;T)
Significance Pathogenic
Disease Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2 Achondrogenesis Diastrophic dysplasia
Variation info
Gene SLC26A2
CLNDBN Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2 Achondrogenesis, type IB Diastrophic dysplasia
Reversed 0
HGVS NC_000005.9:g.149357916T>C
CLNSRC
CLNACC RCV000409387.1, RCV000410512.1, RCV000411619.1, RCV000411790.1,