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rs104893975

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104893975(A;G)
Make rs104893975(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position35806050
GeneLHFPL5
is asnp
is mentioned by
dbSNPrs104893975
ebirs104893975
HLIrs104893975
Exacrs104893975
Varsomers104893975
Maprs104893975
PheGenIrs104893975
hapmaprs104893975
1000 genomesrs104893975
hgdprs104893975
ensemblrs104893975
gopubmedrs104893975
geneviewrs104893975
scholarrs104893975
googlers104893975
pharmgkbrs104893975
gwascentralrs104893975
openSNPrs104893975
23andMers104893975
23andMe allrs104893975
SNP Nexus

SNPshotrs104893975
SNPdbers104893975
MSV3drs104893975
GWAS Ctlgrs104893975
Max Magnitude0
OMIM609427
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104893975(G;G)
Alt rs104893975(G;G)
Reference rs104893975(A;A)
Significance Pathogenic
Disease Deafness
Variation info
Gene LHFPL5
CLNDBN Deafness, autosomal recessive 67
Reversed 0
HGVS NC_000006.11:g.35773827A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001763.2,