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rs756132866

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs756132866(A;A)
Make rs756132866(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position14593300
GenePARN
is asnp
is mentioned by
dbSNPrs756132866
ebirs756132866
HLIrs756132866
Exacrs756132866
Varsomers756132866
Maprs756132866
PheGenIrs756132866
hapmaprs756132866
1000 genomesrs756132866
hgdprs756132866
ensemblrs756132866
gopubmedrs756132866
geneviewrs756132866
scholarrs756132866
googlers756132866
pharmgkbrs756132866
gwascentralrs756132866
openSNPrs756132866
23andMers756132866
23andMe allrs756132866
SNP Nexus

SNPshotrs756132866
SNPdbers756132866
MSV3drs756132866
GWAS Ctlgrs756132866
Max Magnitude0
ClinVar
Risk rs756132866(A;A)
Alt rs756132866(A;A)
Reference rs756132866(C;C)
Significance Pathogenic
Disease Dyskeratosis congenita Dyskeratosis congenita
Variation info
Gene PARN
CLNDBN Dyskeratosis congenita Dyskeratosis congenita, autosomal recessive 6
Reversed 0
HGVS NC_000016.9:g.14687157C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000162314.1, RCV000170485.4,