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

rs786201001

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786201001(-;-)
Make rs786201001(-;A)
Make rs786201001(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position14593355
GenePARN
is asnp
is mentioned by
dbSNPrs786201001
ebirs786201001
HLIrs786201001
Exacrs786201001
Varsomers786201001
Maprs786201001
PheGenIrs786201001
hapmaprs786201001
1000 genomesrs786201001
hgdprs786201001
ensemblrs786201001
gopubmedrs786201001
geneviewrs786201001
scholarrs786201001
googlers786201001
pharmgkbrs786201001
gwascentralrs786201001
openSNPrs786201001
23andMers786201001
23andMe allrs786201001
SNP Nexus

SNPshotrs786201001
SNPdbers786201001
MSV3drs786201001
GWAS Ctlgrs786201001
Max Magnitude0
ClinVar
Risk rs786201001(A;A)
Alt rs786201001(A;A)
Reference rs786201001(;)
Significance Pathogenic
Disease Dyskeratosis congenita Dyskeratosis congenita
Variation info
Gene PARN
CLNDBN Dyskeratosis congenita Dyskeratosis congenita, autosomal recessive 6
Reversed 1
HGVS NC_000016.9:g.14687213dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000162315.1, RCV000170486.4,