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rs72549407

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72549407(C;C)
Make rs72549407(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position22978444
GeneFAM126A
is asnp
is mentioned by
dbSNPrs72549407
ebirs72549407
HLIrs72549407
Exacrs72549407
Varsomers72549407
Maprs72549407
PheGenIrs72549407
hapmaprs72549407
1000 genomesrs72549407
hgdprs72549407
ensemblrs72549407
gopubmedrs72549407
geneviewrs72549407
scholarrs72549407
googlers72549407
pharmgkbrs72549407
gwascentralrs72549407
openSNPrs72549407
23andMers72549407
23andMe allrs72549407
SNP Nexus

SNPshotrs72549407
SNPdbers72549407
MSV3drs72549407
GWAS Ctlgrs72549407
Max Magnitude0
OMIM610531
Desc
Variant0003
Relatedalso
ClinVar
Risk rs72549407(C,G;C,G)
Alt rs72549407(C,G;C,G)
Reference rs72549407(T;T)
Significance Pathogenic
Disease Hypomyelination and Congenital Cataract
Variation info
Gene FAM126A
CLNDBN Hypomyelination and Congenital Cataract
Reversed 1
HGVS NC_000007.13:g.23018063A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001275.3,


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