Rs118203916

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Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203916(C;T)
Make rs118203916(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position71568260
GeneDRP2, TAT
is asnp
is mentioned by
dbSNPrs118203916
PheGenIrs118203916
nextbiors118203916
hapmaprs118203916
1000 genomesrs118203916
hgdprs118203916
ensemblrs118203916
gopubmedrs118203916
geneviewrs118203916
scholarrs118203916
googlers118203916
pharmgkbrs118203916
gwascentralrs118203916
openSNPrs118203916
23andMers118203916
23andMe allrs118203916
SNP Nexus

SNPshotrs118203916
SNPdbers118203916
MSV3drs118203916
Max Magnitude0
OMIM613018
Desc
Variant0003
Relatedalso
ClinVar
Risk rs118203916(T;T)
Alt rs118203916(T;T)
Reference rs118203916(C;C)
Significance Pathogenic
Disease Tyrosinemia type 2
Variation info
Gene RP11-432I5.1 TAT
CLNDBN Tyrosinemia type 2
Reversed 1
HGVS NC_000016.9:g.71602163G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000431.1,