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rs1057516717

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516717(A;G)
Make rs1057516717(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position107695931
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs1057516717
dbSNP (old)rs1057516717
ClinGenrs1057516717
ebirs1057516717
HLIrs1057516717
Exacrs1057516717
Gnomadrs1057516717
Varsomers1057516717
Maprs1057516717
PheGenIrs1057516717
Biobankrs1057516717
1000 genomesrs1057516717
hgdprs1057516717
ensemblrs1057516717
gopubmedrs1057516717
geneviewrs1057516717
scholarrs1057516717
googlers1057516717
pharmgkbrs1057516717
gwascentralrs1057516717
openSNPrs1057516717
23andMers1057516717
23andMe allrs1057516717
SNPshotrs1057516717
SNPdbers1057516717
MSV3drs1057516717
GWAS Ctlgrs1057516717
Max Magnitude0
ClinVar
Risk rs1057516717(G;G)
Alt rs1057516717(G;G)
Reference Rs1057516717(A;A)
Significance Probable-Pathogenic
Disease Pendred's syndrome
Variation info
Gene SLC26A4
CLNDBN Pendred's syndrome
Reversed 0
HGVS NC_000007.13:g.107336376A>G
CLNSRC
CLNACC RCV000411152.1,