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rs1057519508

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519508(A;A)
Make rs1057519508(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position26951628
GeneKDF1
is asnp
is mentioned by
dbSNPrs1057519508
dbSNP (old)rs1057519508
ClinGenrs1057519508
ebirs1057519508
HLIrs1057519508
Exacrs1057519508
Gnomadrs1057519508
Varsomers1057519508
Maprs1057519508
PheGenIrs1057519508
Biobankrs1057519508
1000 genomesrs1057519508
hgdprs1057519508
ensemblrs1057519508
gopubmedrs1057519508
geneviewrs1057519508
scholarrs1057519508
googlers1057519508
pharmgkbrs1057519508
gwascentralrs1057519508
openSNPrs1057519508
23andMers1057519508
23andMe allrs1057519508
SNPshotrs1057519508
SNPdbers1057519508
MSV3drs1057519508
GWAS Ctlgrs1057519508
Max Magnitude0
ClinVar
Risk rs1057519508(A;A)
Alt rs1057519508(A;A)
Reference Rs1057519508(C;C)
Significance Pathogenic
Disease Ectodermal dysplasia 12
Variation info
Gene KDF1 C1orf172
CLNDBN Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
Reversed 1
HGVS NC_000001.10:g.27278119G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000416757.1,