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rs1057517524

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(TCTG;TCTG) 0 common in clinvar
Make rs1057517524(-;-)
Make rs1057517524(-;GTCT)
Make rs1057517524(GTCT;GTCT)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position149980329
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs1057517524
dbSNP (old)rs1057517524
ClinGenrs1057517524
ebirs1057517524
HLIrs1057517524
Exacrs1057517524
Gnomadrs1057517524
Varsomers1057517524
Maprs1057517524
PheGenIrs1057517524
Biobankrs1057517524
1000 genomesrs1057517524
hgdprs1057517524
ensemblrs1057517524
gopubmedrs1057517524
geneviewrs1057517524
scholarrs1057517524
googlers1057517524
pharmgkbrs1057517524
gwascentralrs1057517524
openSNPrs1057517524
23andMers1057517524
23andMe allrs1057517524
SNPshotrs1057517524
SNPdbers1057517524
MSV3drs1057517524
GWAS Ctlgrs1057517524
Max Magnitude0
ClinVar
Risk rs1057517524(-;-)
Alt rs1057517524(-;-)
Reference Rs1057517524(TCTG;TCTG)
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.149359892_149359895delGTCT
CLNSRC
CLNACC RCV000409205.1, RCV000410335.1, RCV000411172.1, RCV000411764.1,