Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057517526

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517526(-;-)
Make rs1057517526(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position149980511
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs1057517526
dbSNP (classic)rs1057517526
ClinGenrs1057517526
ebirs1057517526
HLIrs1057517526
Exacrs1057517526
Gnomadrs1057517526
Varsomers1057517526
LitVarrs1057517526
Maprs1057517526
PheGenIrs1057517526
Biobankrs1057517526
1000 genomesrs1057517526
hgdprs1057517526
ensemblrs1057517526
geneviewrs1057517526
scholarrs1057517526
googlers1057517526
pharmgkbrs1057517526
gwascentralrs1057517526
openSNPrs1057517526
23andMers1057517526
23andMe allrs1057517526
SNPshotrs1057517526
SNPdbers1057517526
MSV3drs1057517526
GWAS Ctlgrs1057517526
Max Magnitude0
ClinVar
Risk rs1057517526(-;-)
Alt rs1057517526(-;-)
Reference Rs1057517526(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.149360074delC
CLNSRC
CLNACC RCV000409922.1, RCV000410085.1, RCV000411035.1, RCV000412037.1,