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rs104894410

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 knuckle pads, leukonychia, and deafness
(G;G) 0 common in clinvar


Make rs104894410(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189407
GeneGJB2
is asnp
is mentioned by
dbSNPrs104894410
ebirs104894410
HLIrs104894410
Exacrs104894410
Varsomers104894410
Maprs104894410
PheGenIrs104894410
hapmaprs104894410
1000 genomesrs104894410
hgdprs104894410
ensemblrs104894410
gopubmedrs104894410
geneviewrs104894410
scholarrs104894410
googlers104894410
pharmgkbrs104894410
gwascentralrs104894410
openSNPrs104894410
23andMers104894410
23andMe allrs104894410
SNP Nexus

SNPshotrs104894410
SNPdbers104894410
MSV3drs104894410
GWAS Ctlgrs104894410
Max Magnitude6

See OMIM for a description of Bart-Pumphrey syndrome, and OMIM 121011.0035 for a discussion of this particular mutation, associated with knuckle pads, leukonychia, and deafness.

OMIM121011
Desc
Variant0035
Relatedalso
ClinVar
Risk rs104894410(A;A)
Alt rs104894410(A;A)
Reference rs104894410(G;G)
Significance Pathogenic
Disease Knuckle pads
Variation info
Gene GJB2
CLNDBN Knuckle pads, deafness AND leukonychia syndrome
Reversed 1
HGVS NC_000013.10:g.20763546C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018562.27,