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rs786205055

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205055(A;A)
Make rs786205055(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position45477899
GenePLEKHM1
is asnp
is mentioned by
dbSNPrs786205055
ebirs786205055
HLIrs786205055
Exacrs786205055
Varsomers786205055
Maprs786205055
PheGenIrs786205055
hapmaprs786205055
1000 genomesrs786205055
hgdprs786205055
ensemblrs786205055
gopubmedrs786205055
geneviewrs786205055
scholarrs786205055
googlers786205055
pharmgkbrs786205055
gwascentralrs786205055
openSNPrs786205055
23andMers786205055
23andMe allrs786205055
SNP Nexus

SNPshotrs786205055
SNPdbers786205055
MSV3drs786205055
GWAS Ctlgrs786205055
Max Magnitude0
ClinVar
Risk rs786205055(A;A)
Alt rs786205055(A;A)
Reference rs786205055(G;G)
Significance Pathogenic
Disease Osteopetrosis autosomal recessive 6
Variation info
Gene PLEKHM1
CLNDBN Osteopetrosis autosomal recessive 6
Reversed 1
HGVS NC_000017.10:g.43555265C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000970.3,