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rs777735526

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs777735526(A;A)
Make rs777735526(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position218661434
GeneBCS1L, ZNF142
is asnp
is mentioned by
dbSNPrs777735526
dbSNP (classic)rs777735526
ClinGenrs777735526
ebirs777735526
HLIrs777735526
Exacrs777735526
Gnomadrs777735526
Varsomers777735526
LitVarrs777735526
Maprs777735526
PheGenIrs777735526
Biobankrs777735526
1000 genomesrs777735526
hgdprs777735526
ensemblrs777735526
geneviewrs777735526
scholarrs777735526
googlers777735526
pharmgkbrs777735526
gwascentralrs777735526
openSNPrs777735526
23andMers777735526
SNPshotrs777735526
SNPdbers777735526
MSV3drs777735526
GWAS Ctlgrs777735526
Max Magnitude0
ClinVar
Risk rs777735526(A;A) rs777735526(T;T)
Alt rs777735526(A;A) rs777735526(T;T)
Reference Rs777735526(C;C)
Significance Probable-Pathogenic
Disease not specified GRACILE syndrome
Variation info
Gene ZNF142 BCS1L
CLNDBN not specified GRACILE syndrome
Reversed 0
HGVS NC_000002.11:g.219526157C>A; NC_000002.11:g.219526157C>T
CLNSRC
CLNACC RCV000306913.1, RCV000409388.1,