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rs1599988

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1599988(C;C)
Make rs1599988(C;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeMT
Position4216
GeneMT-ND1
is asnp
is mentioned by
dbSNPrs1599988
ebirs1599988
HLIrs1599988
Exacrs1599988
Varsomers1599988
Maprs1599988
PheGenIrs1599988
hapmaprs1599988
1000 genomesrs1599988
hgdprs1599988
ensemblrs1599988
gopubmedrs1599988
geneviewrs1599988
scholarrs1599988
googlers1599988
pharmgkbrs1599988
gwascentralrs1599988
openSNPrs1599988
23andMers1599988
23andMe allrs1599988
SNP Nexus

SNPshotrs1599988
SNPdbers1599988
MSV3drs1599988
GWAS Ctlgrs1599988
GMAF0.07297
Max Magnitude0
? (C;C) (C;T) (T;T) 28


ClinVar
Risk rs1599988(C;C)
Alt rs1599988(C;C)
Reference rs1599988(T;T)
Significance Other
Disease Leber's optic atrophy
Variation info
Gene ND1
CLNDBN Leber's optic atrophy
Reversed 0
HGVS NC_012920.1:m.4216T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010373.6,