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rs398122900

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TCCAT;TCCAT) 0 common in clinvar
Make rs398122900(-;-)
Make rs398122900(-;TTCCA)
Make rs398122900(TTCCA;TTCCA)
ReferenceGRCh38 38.1/141
Chromosome14
Position24258380
GeneTGM1
is asnp
is mentioned by
dbSNPrs398122900
ebirs398122900
HLIrs398122900
Exacrs398122900
Varsomers398122900
Maprs398122900
PheGenIrs398122900
hapmaprs398122900
1000 genomesrs398122900
hgdprs398122900
ensemblrs398122900
gopubmedrs398122900
geneviewrs398122900
scholarrs398122900
googlers398122900
pharmgkbrs398122900
gwascentralrs398122900
openSNPrs398122900
23andMers398122900
23andMe allrs398122900
SNP Nexus

SNPshotrs398122900
SNPdbers398122900
MSV3drs398122900
GWAS Ctlgrs398122900
Max Magnitude0
ClinVar
Risk rs398122900(;)
Alt rs398122900(;)
Reference rs398122900(TCCAT;TCCAT)
Significance Pathogenic
Disease Autosomal recessive congenital ichthyosis 1
Variation info
Gene TGM1
CLNDBN Autosomal recessive congenital ichthyosis 1
Reversed 1
HGVS NC_000014.8:g.24727586_24727590delTGGAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000032720.17,