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rs104894509

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894509(A;T)
Make rs104894509(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position21258781
GeneCRYM, LOC105371124
is asnp
is mentioned by
dbSNPrs104894509
dbSNP (classic)rs104894509
ClinGenrs104894509
ebirs104894509
HLIrs104894509
Exacrs104894509
Gnomadrs104894509
Varsomers104894509
LitVarrs104894509
Maprs104894509
PheGenIrs104894509
Biobankrs104894509
1000 genomesrs104894509
hgdprs104894509
ensemblrs104894509
geneviewrs104894509
scholarrs104894509
googlers104894509
pharmgkbrs104894509
gwascentralrs104894509
openSNPrs104894509
23andMers104894509
SNPshotrs104894509
SNPdbers104894509
MSV3drs104894509
GWAS Ctlgrs104894509
Max Magnitude0
OMIM123740
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894509(T;T)
Alt rs104894509(T;T)
Reference Rs104894509(A;A)
Significance Pathogenic
Disease Deafness
Variation info
Gene CRYM
CLNDBN Deafness, autosomal dominant 40
Reversed 1
HGVS NC_000016.9:g.21270102T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018442.24,