Rs104894537

From SNPedia
Jump to: navigation, search

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894537(C;T)
Make rs104894537(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position51141396
GeneSALL1
is asnp
is mentioned by
dbSNPrs104894537
PheGenIrs104894537
nextbiors104894537
hapmaprs104894537
1000 genomesrs104894537
hgdprs104894537
ensemblrs104894537
gopubmedrs104894537
geneviewrs104894537
scholarrs104894537
googlers104894537
pharmgkbrs104894537
gwascentralrs104894537
openSNPrs104894537
23andMers104894537
23andMe allrs104894537
SNP Nexus

SNPshotrs104894537
SNPdbers104894537
MSV3drs104894537
Max Magnitude0
OMIM602218
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894537(T;T)
Alt rs104894537(T;T)
Reference rs104894537(C;C)
Significance Pathogenic
Disease Townes syndrome
Variation info
Gene SALL1
CLNDBN Townes syndrome
Reversed 1
HGVS NC_000016.9:g.51175307G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007853.2,