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rs531163149

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs531163149(A;A)
Make rs531163149(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position70664131
GeneMTSS1L
is asnp
is mentioned by
dbSNPrs531163149
ebirs531163149
HLIrs531163149
Exacrs531163149
Varsomers531163149
Maprs531163149
PheGenIrs531163149
hapmaprs531163149
1000 genomesrs531163149
hgdprs531163149
ensemblrs531163149
gopubmedrs531163149
geneviewrs531163149
scholarrs531163149
googlers531163149
pharmgkbrs531163149
gwascentralrs531163149
openSNPrs531163149
23andMers531163149
23andMe allrs531163149
SNP Nexus

SNPshotrs531163149
SNPdbers531163149
MSV3drs531163149
GWAS Ctlgrs531163149
Max Magnitude0
ClinVar
Risk rs531163149(A,C;A,C)
Alt rs531163149(A,C;A,C)
Reference rs531163149(G;G)
Significance Probable-Pathogenic
Disease Global developmental delay Intellectual disability Iron deposition in globus pallidus Microcephaly Muscular hypotonia
Variation info
Gene MTSS1L
CLNDBN Global developmental delay Intellectual disability Iron deposition in globus pallidus Microcephaly Muscular hypotonia
Reversed 0
HGVS NC_000016.9:g.70698034G>A
CLNSRC
CLNACC RCV000162183.1,