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rs587776915

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs587776915(-;-)
Make rs587776915(-;GC)
ReferenceGRCh38 38.1/142
Chromosome20
Position19990157
GeneRIN2
is asnp
is mentioned by
dbSNPrs587776915
ebirs587776915
HLIrs587776915
Exacrs587776915
Varsomers587776915
Maprs587776915
PheGenIrs587776915
hapmaprs587776915
1000 genomesrs587776915
hgdprs587776915
ensemblrs587776915
gopubmedrs587776915
geneviewrs587776915
scholarrs587776915
googlers587776915
pharmgkbrs587776915
gwascentralrs587776915
openSNPrs587776915
23andMers587776915
23andMe allrs587776915
SNP Nexus

SNPshotrs587776915
SNPdbers587776915
MSV3drs587776915
GWAS Ctlgrs587776915
Max Magnitude0
ClinVar
Risk rs587776915(;)
Alt rs587776915(;)
Reference rs587776915(GC;GC)
Significance Pathogenic
Disease Macrocephaly
Variation info
Gene RIN2
CLNDBN Macrocephaly, alopecia, cutis laxa, and scoliosis
Reversed 0
HGVS NC_000020.10:g.19970801_19970802delGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000030606.5,