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rs200549601

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200549601(A;A)
Make rs200549601(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome15
Position64409735
GeneTRIP4
is asnp
is mentioned by
dbSNPrs200549601
ebirs200549601
HLIrs200549601
Exacrs200549601
Varsomers200549601
Maprs200549601
PheGenIrs200549601
hapmaprs200549601
1000 genomesrs200549601
hgdprs200549601
ensemblrs200549601
gopubmedrs200549601
geneviewrs200549601
scholarrs200549601
googlers200549601
pharmgkbrs200549601
gwascentralrs200549601
openSNPrs200549601
23andMers200549601
23andMe allrs200549601
SNP Nexus

SNPshotrs200549601
SNPdbers200549601
MSV3drs200549601
GWAS Ctlgrs200549601
Max Magnitude0
ClinVar
Risk rs200549601(A;A)
Alt rs200549601(A;A)
Reference rs200549601(G;G)
Significance Pathogenic
Disease Muscular dystrophy
Variation info
Gene TRIP4
CLNDBN Muscular dystrophy, congenital, davignon-chauveau type
Reversed 0
HGVS NC_000015.9:g.64701934G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000239524.1,