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

rs2232387

From SNPedia

Orientationminus
Stabilizedplus
Make rs2232387(A;A)
Make rs2232387(A;G)
Make rs2232387(G;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position52433824
GeneKRT75
is asnp
is mentioned by
dbSNPrs2232387
ebirs2232387
HLIrs2232387
Exacrs2232387
Varsomers2232387
Maprs2232387
PheGenIrs2232387
hapmaprs2232387
1000 genomesrs2232387
hgdprs2232387
ensemblrs2232387
gopubmedrs2232387
geneviewrs2232387
scholarrs2232387
googlers2232387
pharmgkbrs2232387
gwascentralrs2232387
openSNPrs2232387
23andMers2232387
23andMe allrs2232387
SNP Nexus

SNPshotrs2232387
SNPdbers2232387
MSV3drs2232387
GWAS Ctlgrs2232387
GMAF0.1345
Max Magnitude
? (A;A) (A;G) (G;G) 28
OMIM609025
Desc
Variant0001
Relatedalso


ClinVar
Risk rs2232387(A;A)
Alt rs2232387(A;A)
Reference rs2232387(G;G)
Significance Other
Disease Pseudofolliculitis barbae not provided
Variation info
Gene KRT75
CLNDBN Pseudofolliculitis barbae, susceptibility to not provided
Reversed 1
HGVS NC_000012.11:g.52827608C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001968.2, RCV000056970.1,



GET Evidence
KRT75-A161T
aa_change Ala161Thr
aa_change_short A161T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.13404
summary