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rs137853084

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137853084(A;A)
Make rs137853084(A;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position51140966
GeneSALL1
is asnp
is mentioned by
dbSNPrs137853084
ebirs137853084
HLIrs137853084
Exacrs137853084
Varsomers137853084
Maprs137853084
PheGenIrs137853084
hapmaprs137853084
1000 genomesrs137853084
hgdprs137853084
ensemblrs137853084
gopubmedrs137853084
geneviewrs137853084
scholarrs137853084
googlers137853084
pharmgkbrs137853084
gwascentralrs137853084
openSNPrs137853084
23andMers137853084
23andMe allrs137853084
SNP Nexus

SNPshotrs137853084
SNPdbers137853084
MSV3drs137853084
GWAS Ctlgrs137853084
Max Magnitude0
OMIM602218
Desc
Variant0010
Relatedalso
ClinVar
Risk rs137853084(A;A)
Alt rs137853084(A;A)
Reference rs137853084(T;T)
Significance Pathogenic
Disease Townes syndrome
Variation info
Gene SALL1
CLNDBN Townes syndrome
Reversed 1
HGVS NC_000016.9:g.51174877A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007860.4,