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rs7560008

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in complete genomics
Make rs7560008(A;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position215011442
GeneABCA12
is asnp
is mentioned by
dbSNPrs7560008
dbSNP (classic)rs7560008
ClinGenrs7560008
ebirs7560008
HLIrs7560008
Exacrs7560008
Gnomadrs7560008
Varsomers7560008
LitVarrs7560008
Maprs7560008
PheGenIrs7560008
Biobankrs7560008
1000 genomesrs7560008
hgdprs7560008
ensemblrs7560008
geneviewrs7560008
scholarrs7560008
googlers7560008
pharmgkbrs7560008
gwascentralrs7560008
openSNPrs7560008
23andMers7560008
23andMe allrs7560008
SNPshotrs7560008
SNPdbers7560008
MSV3drs7560008
GWAS Ctlgrs7560008
GMAF0.001837
Max Magnitude0
? (A;A) (A;T) (T;T) 28




ClinVar
Risk Rs7560008(T;T)
Alt Rs7560008(T;T)
Reference Rs7560008(A;A)
Significance Non-pathogenic
Disease not specified Congenital ichthyosiform erythroderma
Variation info
Gene ABCA12
CLNDBN not specified Congenital ichthyosiform erythroderma
Reversed 0
HGVS NC_000002.11:g.215876166A>T
CLNSRC
CLNACC RCV000248760.1, RCV000319091.1,