Have questions? Visit https://www.reddit.com/r/SNPedia

rs72549405

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72549405(A;A)
Make rs72549405(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position22991060
GeneFAM126A
is asnp
is mentioned by
dbSNPrs72549405
ebirs72549405
HLIrs72549405
Exacrs72549405
Varsomers72549405
Maprs72549405
PheGenIrs72549405
hapmaprs72549405
1000 genomesrs72549405
hgdprs72549405
ensemblrs72549405
gopubmedrs72549405
geneviewrs72549405
scholarrs72549405
googlers72549405
pharmgkbrs72549405
gwascentralrs72549405
openSNPrs72549405
23andMers72549405
23andMe allrs72549405
SNP Nexus

SNPshotrs72549405
SNPdbers72549405
MSV3drs72549405
GWAS Ctlgrs72549405
Max Magnitude0
OMIM610531
Desc
Variant0001
Relatedalso


ClinVar
Risk rs72549405(A;A)
Alt rs72549405(A;A)
Reference rs72549405(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.23030679C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001273.3,



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