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rs72549406

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72549406(C;C)
Make rs72549406(C;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position22977340
GeneFAM126A
is asnp
is mentioned by
dbSNPrs72549406
ebirs72549406
HLIrs72549406
Exacrs72549406
Varsomers72549406
Maprs72549406
PheGenIrs72549406
hapmaprs72549406
1000 genomesrs72549406
hgdprs72549406
ensemblrs72549406
gopubmedrs72549406
geneviewrs72549406
scholarrs72549406
googlers72549406
pharmgkbrs72549406
gwascentralrs72549406
openSNPrs72549406
23andMers72549406
23andMe allrs72549406
SNP Nexus

SNPshotrs72549406
SNPdbers72549406
MSV3drs72549406
GWAS Ctlgrs72549406
Max Magnitude0
OMIM610531
Desc
Variant0002
Relatedalso


ClinVar
Risk rs72549406(C,T;C,T)
Alt rs72549406(C,T;C,T)
Reference rs72549406(G;G)
Significance Pathogenic
Disease Hypomyelination and Congenital Cataract
Variation info
Gene FAM126A
CLNDBN Hypomyelination and Congenital Cataract
Reversed 1
HGVS NC_000007.13:g.23016959C>A; NC_000007.13:g.23016959C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001274.3, RCV000144432.1,



[PMID 16951682] Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.