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

rs7560008

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs7560008(A;A)
Make rs7560008(A;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position215011442
GeneABCA12
is asnp
is mentioned by
dbSNPrs7560008
ebirs7560008
HLIrs7560008
Exacrs7560008
Varsomers7560008
Maprs7560008
PheGenIrs7560008
hapmaprs7560008
1000 genomesrs7560008
hgdprs7560008
ensemblrs7560008
gopubmedrs7560008
geneviewrs7560008
scholarrs7560008
googlers7560008
pharmgkbrs7560008
gwascentralrs7560008
openSNPrs7560008
23andMers7560008
23andMe allrs7560008
SNP Nexus

SNPshotrs7560008
SNPdbers7560008
MSV3drs7560008
GWAS Ctlgrs7560008
GMAF0.001837
Max Magnitude0
? (A;A) (A;T) (T;T) 28
Venter snp
Source plos
Gene ABCA12
allele T
frequency 1
sift TOLERATED
HuRef 1103658361668
Disease Association Defects in ABCA12 are the cause of lamellar ichthyosis type 2 (LI2) (MIM:601277); also known as ichthyosis congenita IIB (ICR2B). LI2 is a rare autosomal recessive skin disorder.



GET Evidence
ABCA12-S777T
aa_change Ser777Thr
aa_change_short S777T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.997768
summary