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rs281797258

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281797258(A;A)
Make rs281797258(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position10413265
GeneMKKS
is asnp
is mentioned by
dbSNPrs281797258
dbSNP (classic)rs281797258
ClinGenrs281797258
ebirs281797258
HLIrs281797258
Exacrs281797258
Gnomadrs281797258
Varsomers281797258
LitVarrs281797258
Maprs281797258
PheGenIrs281797258
Biobankrs281797258
1000 genomesrs281797258
hgdprs281797258
ensemblrs281797258
geneviewrs281797258
scholarrs281797258
googlers281797258
pharmgkbrs281797258
gwascentralrs281797258
openSNPrs281797258
23andMers281797258
SNPshotrs281797258
SNPdbers281797258
MSV3drs281797258
GWAS Ctlgrs281797258
Max Magnitude0
ClinVar
Risk rs281797258(A;A)
Alt rs281797258(A;A)
Reference Rs281797258(G;G)
Significance Pathogenic
Disease McKusick Kaufman syndrome
Variation info
Gene MKKS
CLNDBN McKusick Kaufman syndrome
Reversed 0
HGVS NC_000020.10:g.10393913G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005632.3,