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rs864621971

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs864621971(C;T)
Make rs864621971(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position51141273
GeneSALL1
is asnp
is mentioned by
dbSNPrs864621971
ebirs864621971
HLIrs864621971
Exacrs864621971
Varsomers864621971
Maprs864621971
PheGenIrs864621971
hapmaprs864621971
1000 genomesrs864621971
hgdprs864621971
ensemblrs864621971
gopubmedrs864621971
geneviewrs864621971
scholarrs864621971
googlers864621971
pharmgkbrs864621971
gwascentralrs864621971
openSNPrs864621971
23andMers864621971
23andMe allrs864621971
SNP Nexus

SNPshotrs864621971
SNPdbers864621971
MSV3drs864621971
GWAS Ctlgrs864621971
Max Magnitude0
ClinVar
Risk rs864621971(T;T)
Alt rs864621971(T;T)
Reference rs864621971(C;C)
Significance Pathogenic
Disease Townes syndrome
Variation info
Gene SALL1
CLNDBN Townes syndrome
Reversed 1
HGVS NC_000016.9:g.51175184G>A
CLNSRC
CLNACC RCV000205374.1,