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rs200691042

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar


Make rs200691042(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position61839695
GeneFAM161A
is asnp
is mentioned by
dbSNPrs200691042
dbSNP (classic)rs200691042
ClinGenrs200691042
ebirs200691042
HLIrs200691042
Exacrs200691042
Gnomadrs200691042
Varsomers200691042
LitVarrs200691042
Maprs200691042
PheGenIrs200691042
Biobankrs200691042
1000 genomesrs200691042
hgdprs200691042
ensemblrs200691042
geneviewrs200691042
scholarrs200691042
googlers200691042
pharmgkbrs200691042
gwascentralrs200691042
openSNPrs200691042
23andMers200691042
SNPshotrs200691042
SNPdbers200691042
MSV3drs200691042
GWAS Ctlgrs200691042
Max Magnitude0

aka c.1309A>T (p.Arg437Ter or R437X)

ClinVar
Risk rs200691042(A;A)
Alt rs200691042(A;A)
Reference Rs200691042(T;T)
Significance Pathogenic
Disease Retinitis pigmentosa 28 not provided
Variation info
Gene FAM161A
CLNDBN Retinitis pigmentosa 28 not provided
Reversed 0
HGVS NC_000002.11:g.62066830T>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000000053.3, RCV000153226.3,