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rs144346996

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs144346996(C;G)
Make rs144346996(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome17
Position81934652
GenePYCR1
is asnp
is mentioned by
dbSNPrs144346996
dbSNP (old)rs144346996
ClinGenrs144346996
ebirs144346996
HLIrs144346996
Exacrs144346996
Gnomadrs144346996
Varsomers144346996
LitVarrs144346996
Maprs144346996
PheGenIrs144346996
Biobankrs144346996
1000 genomesrs144346996
hgdprs144346996
ensemblrs144346996
gopubmedrs144346996
geneviewrs144346996
scholarrs144346996
googlers144346996
pharmgkbrs144346996
gwascentralrs144346996
openSNPrs144346996
23andMers144346996
23andMe allrs144346996
SNPshotrs144346996
SNPdbers144346996
MSV3drs144346996
GWAS Ctlgrs144346996
Max Magnitude0
ClinVar
Risk rs144346996(G;G)
Alt rs144346996(G;G)
Reference Rs144346996(C;C)
Significance Probable-Pathogenic
Disease Cutis laxa
Variation info
Gene PYCR1
CLNDBN Cutis laxa, recessive
Reversed 0
HGVS NC_000017.10:g.79892528C>G
CLNSRC Illumina
CLNACC RCV000399805.1,