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rs1057517000

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517000(G;T)
Make rs1057517000(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position107690238
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs1057517000
dbSNP (old)rs1057517000
ClinGenrs1057517000
ebirs1057517000
HLIrs1057517000
Exacrs1057517000
Gnomadrs1057517000
Varsomers1057517000
Maprs1057517000
PheGenIrs1057517000
Biobankrs1057517000
1000 genomesrs1057517000
hgdprs1057517000
ensemblrs1057517000
gopubmedrs1057517000
geneviewrs1057517000
scholarrs1057517000
googlers1057517000
pharmgkbrs1057517000
gwascentralrs1057517000
openSNPrs1057517000
23andMers1057517000
23andMe allrs1057517000
SNPshotrs1057517000
SNPdbers1057517000
MSV3drs1057517000
GWAS Ctlgrs1057517000
Max Magnitude0
ClinVar
Risk rs1057517000(A;A) rs1057517000(T;T)
Alt rs1057517000(A;A) rs1057517000(T;T)
Reference Rs1057517000(G;G)
Significance Probable-Pathogenic
Disease Pendred's syndrome
Variation info
Gene SLC26A4
CLNDBN Pendred's syndrome
Reversed 0
HGVS NC_000007.13:g.107330683G>A; NC_000007.13:g.107330683G>T
CLNSRC
CLNACC RCV000411368.1, RCV000409041.1,