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rs1057517496

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517496(-;-)
Make rs1057517496(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position149977840
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs1057517496
dbSNP (old)rs1057517496
ClinGenrs1057517496
ebirs1057517496
HLIrs1057517496
Exacrs1057517496
Gnomadrs1057517496
Varsomers1057517496
Maprs1057517496
PheGenIrs1057517496
Biobankrs1057517496
1000 genomesrs1057517496
hgdprs1057517496
ensemblrs1057517496
gopubmedrs1057517496
geneviewrs1057517496
scholarrs1057517496
googlers1057517496
pharmgkbrs1057517496
gwascentralrs1057517496
openSNPrs1057517496
23andMers1057517496
23andMe allrs1057517496
SNPshotrs1057517496
SNPdbers1057517496
MSV3drs1057517496
GWAS Ctlgrs1057517496
Max Magnitude0
ClinVar
Risk rs1057517496(-;-)
Alt rs1057517496(-;-)
Reference Rs1057517496(A;A)
Significance Probable-Pathogenic
Disease Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2 Diastrophic dysplasia Achondrogenesis
Variation info
Gene SLC26A2
CLNDBN Multiple epiphyseal dysplasia 4 Atelosteogenesis type 2 Diastrophic dysplasia Achondrogenesis, type IB
Reversed 0
HGVS NC_000005.9:g.149357403delA
CLNSRC
CLNACC RCV000409732.1, RCV000410879.1, RCV000411718.1, RCV000412405.1,