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rs1057515580

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057515580(C;C)
Make rs1057515580(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position183650358
GeneKLHL24
is asnp
is mentioned by
dbSNPrs1057515580
dbSNP (old)rs1057515580
ClinGenrs1057515580
ebirs1057515580
HLIrs1057515580
Exacrs1057515580
Gnomadrs1057515580
Varsomers1057515580
Maprs1057515580
PheGenIrs1057515580
Biobankrs1057515580
1000 genomesrs1057515580
hgdprs1057515580
ensemblrs1057515580
gopubmedrs1057515580
geneviewrs1057515580
scholarrs1057515580
googlers1057515580
pharmgkbrs1057515580
gwascentralrs1057515580
openSNPrs1057515580
23andMers1057515580
23andMe allrs1057515580
SNPshotrs1057515580
SNPdbers1057515580
MSV3drs1057515580
GWAS Ctlgrs1057515580
Max Magnitude0
ClinVar
Risk rs1057515580(C;C)
Alt rs1057515580(C;C)
Reference Rs1057515580(T;T)
Significance Pathogenic
Disease Epidermolysis bullosa simplex Epidermolysis bullosa simplex
Variation info
Gene KLHL24
CLNDBN Epidermolysis bullosa simplex, Koebner type Epidermolysis bullosa simplex, generalized, with scarring and hair loss
Reversed 0
HGVS NC_000003.11:g.183368146T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000408918.1, RCV000415575.1,