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rs104894412

From SNPedia

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


Make rs104894412(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189420
GeneGJB2
is asnp
is mentioned by
dbSNPrs104894412
ebirs104894412
HLIrs104894412
Exacrs104894412
Varsomers104894412
Maprs104894412
PheGenIrs104894412
hapmaprs104894412
1000 genomesrs104894412
hgdprs104894412
ensemblrs104894412
gopubmedrs104894412
geneviewrs104894412
scholarrs104894412
googlers104894412
pharmgkbrs104894412
gwascentralrs104894412
openSNPrs104894412
23andMers104894412
23andMe allrs104894412
SNP Nexus

SNPshotrs104894412
SNPdbers104894412
MSV3drs104894412
GWAS Ctlgrs104894412
Max Magnitude6

See OMIM for a description of Bart-Pumphrey syndrome, and OMIM 121011.0030 for a discussion of this particular mutation, associated with knuckle pads, leukonychia, and deafness.

OMIM121011
Desc
Variant0030
Relatedalso
ClinVar
Risk rs104894412(A;A)
Alt rs104894412(A;A)
Reference rs104894412(C;C)
Significance Pathogenic
Disease Knuckle pads
Variation info
Gene GJB2
CLNDBN Knuckle pads, deafness AND leukonychia syndrome
Reversed 1
HGVS NC_000013.10:g.20763559G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018558.28,