Have questions? Visit https://www.reddit.com/r/SNPedia

rs606231255

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231255(A;A)
Make rs606231255(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position92671484
GeneCDK6
is asnp
is mentioned by
dbSNPrs606231255
dbSNP (classic)rs606231255
ClinGenrs606231255
ebirs606231255
HLIrs606231255
Exacrs606231255
Gnomadrs606231255
Varsomers606231255
LitVarrs606231255
Maprs606231255
PheGenIrs606231255
Biobankrs606231255
1000 genomesrs606231255
hgdprs606231255
ensemblrs606231255
geneviewrs606231255
scholarrs606231255
googlers606231255
pharmgkbrs606231255
gwascentralrs606231255
openSNPrs606231255
23andMers606231255
SNPshotrs606231255
SNPdbers606231255
MSV3drs606231255
GWAS Ctlgrs606231255
Max Magnitude0
ClinVar
Risk rs606231255(A;A)
Alt rs606231255(A;A)
Reference Rs606231255(G;G)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 12
Variation info
Gene CDK6
CLNDBN Primary autosomal recessive microcephaly 12
Reversed 1
HGVS NC_000007.13:g.92300798C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000144853.3,