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rs1057517471

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517471(-;T)
Make rs1057517471(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position149980904
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs1057517471
dbSNP (old)rs1057517471
ClinGenrs1057517471
ebirs1057517471
HLIrs1057517471
Exacrs1057517471
Gnomadrs1057517471
Varsomers1057517471
LitVarrs1057517471
Maprs1057517471
PheGenIrs1057517471
Biobankrs1057517471
1000 genomesrs1057517471
hgdprs1057517471
ensemblrs1057517471
gopubmedrs1057517471
geneviewrs1057517471
scholarrs1057517471
googlers1057517471
pharmgkbrs1057517471
gwascentralrs1057517471
openSNPrs1057517471
23andMers1057517471
23andMe allrs1057517471
SNPshotrs1057517471
SNPdbers1057517471
MSV3drs1057517471
GWAS Ctlgrs1057517471
Max Magnitude0
ClinVar
Risk rs1057517471(T;T)
Alt rs1057517471(T;T)
Reference Rs1057517471(-;-)
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.149360467dupT
CLNSRC
CLNACC RCV000410215.1, RCV000411307.1, RCV000411541.1, RCV000412220.1,