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rs758601634

From SNPedia

Orientationplus
Make rs758601634(-;-)
Make rs758601634(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position81935121
GenePYCR1
is asnp
is mentioned by
dbSNPrs758601634
ebirs758601634
HLIrs758601634
Exacrs758601634
Varsomers758601634
Maprs758601634
PheGenIrs758601634
hapmaprs758601634
1000 genomesrs758601634
hgdprs758601634
ensemblrs758601634
gopubmedrs758601634
geneviewrs758601634
scholarrs758601634
googlers758601634
pharmgkbrs758601634
gwascentralrs758601634
openSNPrs758601634
23andMers758601634
23andMe allrs758601634
SNP Nexus

SNPshotrs758601634
SNPdbers758601634
MSV3drs758601634
GWAS Ctlgrs758601634
Max Magnitude
ClinVar
Risk rs758601634(;)
Alt rs758601634(;)
Reference rs758601634(G;G)
Significance Pathogenic
Disease Autosomal recessive cutis laxa type 3B
Variation info
Gene PYCR1
CLNDBN Autosomal recessive cutis laxa type 3B
Reversed 0
HGVS NC_000017.10:g.79892997delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000022743.27,