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rs797045144

From SNPedia

Orientationminus
Make rs797045144(-;-)
Make rs797045144(-;AAG)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position67659786
GeneACD, PARD6A
is asnp
is mentioned by
dbSNPrs797045144
ebirs797045144
HLIrs797045144
Exacrs797045144
Varsomers797045144
Maprs797045144
PheGenIrs797045144
hapmaprs797045144
1000 genomesrs797045144
hgdprs797045144
ensemblrs797045144
gopubmedrs797045144
geneviewrs797045144
scholarrs797045144
googlers797045144
pharmgkbrs797045144
gwascentralrs797045144
openSNPrs797045144
23andMers797045144
23andMe allrs797045144
SNP Nexus

SNPshotrs797045144
SNPdbers797045144
MSV3drs797045144
GWAS Ctlgrs797045144
Max Magnitude
ClinVar
Risk rs797045144(;)
Alt rs797045144(;)
Reference rs797045144(AAG;AAG)
Significance Pathogenic
Disease Dyskeratosis congenita Dyskeratosis congenita
Variation info
Gene ACD PARD6A
CLNDBN Dyskeratosis congenita, autosomal dominant 6 Dyskeratosis congenita, autosomal recessive 7
Reversed 1
HGVS NC_000016.9:g.67693689_67693691delCTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000190903.5, RCV000190904.3,