Have questions? Visit https://www.reddit.com/r/SNPedia

rs4261597

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs4261597(A;A)
Make rs4261597(A;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position40822284
GeneKRT10, TMEM99
is asnp
is mentioned by
dbSNPrs4261597
ebirs4261597
HLIrs4261597
Exacrs4261597
Varsomers4261597
Maprs4261597
PheGenIrs4261597
hapmaprs4261597
1000 genomesrs4261597
hgdprs4261597
ensemblrs4261597
gopubmedrs4261597
geneviewrs4261597
scholarrs4261597
googlers4261597
pharmgkbrs4261597
gwascentralrs4261597
openSNPrs4261597
23andMers4261597
23andMe allrs4261597
SNP Nexus

SNPshotrs4261597
SNPdbers4261597
MSV3drs4261597
GWAS Ctlgrs4261597
GMAF0.001837
Max Magnitude0
Venter snp
Source plos
Gene KRT10
allele C
frequency
sift TOLERATED
HuRef 1103645323282
Disease Association Defects in KRT10 are a cause of annular epidermolytic ichthyosis (AEI) (MIM:607602); also known as cyclic ichthyosis with epidermolytic hyperkeratosis. AEI resembles clinical and histologic features of both epidermolytic hyperkeratosis and ichthyosis bullosa of Siemens.



GET Evidence
KRT10-I101S
aa_change Ile101Ser
aa_change_short I101S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.998513
summary