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rs11903223

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs11903223(A;A)
Make rs11903223(A;T)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position71686599
GeneDYSF
is asnp
is mentioned by
dbSNPrs11903223
dbSNP (old)rs11903223
ClinGenrs11903223
ebirs11903223
HLIrs11903223
Exacrs11903223
Gnomadrs11903223
Varsomers11903223
Maprs11903223
PheGenIrs11903223
Biobankrs11903223
1000 genomesrs11903223
hgdprs11903223
ensemblrs11903223
gopubmedrs11903223
geneviewrs11903223
scholarrs11903223
googlers11903223
pharmgkbrs11903223
gwascentralrs11903223
openSNPrs11903223
23andMers11903223
23andMe allrs11903223
SNPshotrs11903223
SNPdbers11903223
MSV3drs11903223
GWAS Ctlgrs11903223
Max Magnitude0

[PMID 27569544OA-icon.png] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.

ClinVar
Risk rs11903223(A;A) rs11903223(G;G)
Alt rs11903223(A;A) rs11903223(G;G)
Reference Rs11903223(T;T)
Significance Probable-non-pathogenic
Disease not specified
Variation info
Gene DYSF
CLNDBN not specified
Reversed 0
HGVS NC_000002.11:g.71913729T>A
CLNSRC
CLNACC RCV000351649.2,