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rs397514642

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514642(A;A)
Make rs397514642(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position45950453
GeneZNF335
is asnp
is mentioned by
dbSNPrs397514642
ebirs397514642
HLIrs397514642
Exacrs397514642
Varsomers397514642
Maprs397514642
PheGenIrs397514642
hapmaprs397514642
1000 genomesrs397514642
hgdprs397514642
ensemblrs397514642
gopubmedrs397514642
geneviewrs397514642
scholarrs397514642
googlers397514642
pharmgkbrs397514642
gwascentralrs397514642
openSNPrs397514642
23andMers397514642
23andMe allrs397514642
SNP Nexus

SNPshotrs397514642
SNPdbers397514642
MSV3drs397514642
GWAS Ctlgrs397514642
Max Magnitude0
ClinVar
Risk rs397514642(A;A)
Alt rs397514642(A;A)
Reference rs397514642(G;G)
Significance Pathogenic
Disease Inborn genetic diseases Primary autosomal recessive microcephaly 10
Variation info
Gene ZNF335
CLNDBN Inborn genetic diseases Primary autosomal recessive microcephaly 10
Reversed 1
HGVS NC_000020.10:g.44579092C>A; NC_000020.10:g.44579092C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000210571.1, RCV000033174.4,