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rs786200999

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786200999(C;T)
Make rs786200999(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position14582225
GenePARN
is asnp
is mentioned by
dbSNPrs786200999
ebirs786200999
HLIrs786200999
Exacrs786200999
Varsomers786200999
Maprs786200999
PheGenIrs786200999
hapmaprs786200999
1000 genomesrs786200999
hgdprs786200999
ensemblrs786200999
gopubmedrs786200999
geneviewrs786200999
scholarrs786200999
googlers786200999
pharmgkbrs786200999
gwascentralrs786200999
openSNPrs786200999
23andMers786200999
23andMe allrs786200999
SNP Nexus

SNPshotrs786200999
SNPdbers786200999
MSV3drs786200999
GWAS Ctlgrs786200999
Max Magnitude0
ClinVar
Risk rs786200999(T;T)
Alt rs786200999(T;T)
Reference rs786200999(C;C)
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.14676082G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000162313.1, RCV000170484.4,