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rs104893976

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893976(C;T)
Make rs104893976(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position35814627
GeneLHFPL5
is asnp
is mentioned by
dbSNPrs104893976
ebirs104893976
HLIrs104893976
Exacrs104893976
Varsomers104893976
Maprs104893976
PheGenIrs104893976
hapmaprs104893976
1000 genomesrs104893976
hgdprs104893976
ensemblrs104893976
gopubmedrs104893976
geneviewrs104893976
scholarrs104893976
googlers104893976
pharmgkbrs104893976
gwascentralrs104893976
openSNPrs104893976
23andMers104893976
23andMe allrs104893976
SNP Nexus

SNPshotrs104893976
SNPdbers104893976
MSV3drs104893976
GWAS Ctlgrs104893976
Max Magnitude0
OMIM609427
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104893976(T;T)
Alt rs104893976(T;T)
Reference rs104893976(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene LHFPL5
CLNDBN Deafness, autosomal recessive 67
Reversed 0
HGVS NC_000006.11:g.35782404C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001765.2,