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rs1057516988

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516988(A;A)
Make rs1057516988(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position107674163
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs1057516988
dbSNP (classic)rs1057516988
ClinGenrs1057516988
ebirs1057516988
HLIrs1057516988
Exacrs1057516988
Gnomadrs1057516988
Varsomers1057516988
LitVarrs1057516988
Maprs1057516988
PheGenIrs1057516988
Biobankrs1057516988
1000 genomesrs1057516988
hgdprs1057516988
ensemblrs1057516988
geneviewrs1057516988
scholarrs1057516988
googlers1057516988
pharmgkbrs1057516988
gwascentralrs1057516988
openSNPrs1057516988
23andMers1057516988
23andMe allrs1057516988
SNPshotrs1057516988
SNPdbers1057516988
MSV3drs1057516988
GWAS Ctlgrs1057516988
Max Magnitude0
ClinVar
Risk rs1057516988(A;A)
Alt rs1057516988(A;A)
Reference Rs1057516988(G;G)
Significance Pathogenic
Disease Pendred's syndrome
Variation info
Gene SLC26A4
CLNDBN Pendred's syndrome
Reversed 0
HGVS NC_000007.13:g.107314608G>A
CLNSRC
CLNACC RCV000410577.1,