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rs201441120

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201441120(G;T)
Make rs201441120(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position67657847
GeneACD, RLTPR
is asnp
is mentioned by
dbSNPrs201441120
ebirs201441120
HLIrs201441120
Exacrs201441120
Varsomers201441120
Maprs201441120
PheGenIrs201441120
hapmaprs201441120
1000 genomesrs201441120
hgdprs201441120
ensemblrs201441120
gopubmedrs201441120
geneviewrs201441120
scholarrs201441120
googlers201441120
pharmgkbrs201441120
gwascentralrs201441120
openSNPrs201441120
23andMers201441120
23andMe allrs201441120
SNP Nexus

SNPshotrs201441120
SNPdbers201441120
MSV3drs201441120
GWAS Ctlgrs201441120
Max Magnitude0
ClinVar
Risk rs201441120(T;T)
Alt rs201441120(T;T)
Reference rs201441120(G;G)
Significance Pathogenic
Disease Dyskeratosis congenita Dyskeratosis congenita
Variation info
Gene ACD RLTPR
CLNDBN Dyskeratosis congenita, autosomal recessive 7 Dyskeratosis congenita, autosomal dominant 6
Reversed 0
HGVS NC_000016.9:g.67691750G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000190905.2, RCV000225075.1,