Rs104894538

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Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894538(C;T)
Make rs104894538(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position51141255
GeneSALL1
is asnp
is mentioned by
dbSNPrs104894538
Exacrs104894538
PheGenIrs104894538
nextbiors104894538
hapmaprs104894538
1000 genomesrs104894538
hgdprs104894538
ensemblrs104894538
gopubmedrs104894538
geneviewrs104894538
scholarrs104894538
googlers104894538
pharmgkbrs104894538
gwascentralrs104894538
openSNPrs104894538
23andMers104894538
23andMe allrs104894538
SNP Nexus

SNPshotrs104894538
SNPdbers104894538
MSV3drs104894538
OMIM602218
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894538(T;T)
Alt rs104894538(T;T)
Reference rs104894538(C;C)
Significance Pathogenic
Disease Townes-Brocks-branchiootorenal-like syndrome
Variation info
Gene SALL1
CLNDBN Townes-Brocks-branchiootorenal-like syndrome
Reversed 1
HGVS NC_000016.9:g.51175166G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007859.1,