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rs200484521

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200484521(C;T)
Make rs200484521(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position36006591
GeneSYNE4
is asnp
is mentioned by
dbSNPrs200484521
ebirs200484521
HLIrs200484521
Exacrs200484521
Varsomers200484521
Maprs200484521
PheGenIrs200484521
hapmaprs200484521
1000 genomesrs200484521
hgdprs200484521
ensemblrs200484521
gopubmedrs200484521
geneviewrs200484521
scholarrs200484521
googlers200484521
pharmgkbrs200484521
gwascentralrs200484521
openSNPrs200484521
23andMers200484521
23andMe allrs200484521
SNP Nexus

SNPshotrs200484521
SNPdbers200484521
MSV3drs200484521
GWAS Ctlgrs200484521
Max Magnitude0
ClinVar
Risk rs200484521(T;T)
Alt rs200484521(T;T)
Reference rs200484521(C;C)
Significance Probable-Pathogenic
Disease Non-syndromic genetic deafness
Variation info
Gene SYNE4
CLNDBN Non-syndromic genetic deafness
Reversed 0
HGVS NC_000019.9:g.36497493C>T
CLNSRC
CLNACC RCV000217413.1,