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rs150736997

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs150736997(A;G)
Make rs150736997(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position63808776
GeneTMEM5
is asnp
is mentioned by
dbSNPrs150736997
ebirs150736997
HLIrs150736997
Exacrs150736997
Varsomers150736997
Maprs150736997
PheGenIrs150736997
hapmaprs150736997
1000 genomesrs150736997
hgdprs150736997
ensemblrs150736997
gopubmedrs150736997
geneviewrs150736997
scholarrs150736997
googlers150736997
pharmgkbrs150736997
gwascentralrs150736997
openSNPrs150736997
23andMers150736997
23andMe allrs150736997
SNP Nexus

SNPshotrs150736997
SNPdbers150736997
MSV3drs150736997
GWAS Ctlgrs150736997
Max Magnitude0
ClinVar
Risk rs150736997(G;G)
Alt rs150736997(G;G)
Reference rs150736997(A;A)
Significance Pathogenic
Disease Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Variation info
Gene TMEM5 TMEM5-AS1
CLNDBN Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
Reversed 0
HGVS NC_000012.11:g.64202556A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000032804.4,