Rs118203914

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Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203914(C;T)
Make rs118203914(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position71576247
GeneDRP2, TAT
is asnp
is mentioned by
dbSNPrs118203914
Exacrs118203914
PheGenIrs118203914
nextbiors118203914
hapmaprs118203914
1000 genomesrs118203914
hgdprs118203914
ensemblrs118203914
gopubmedrs118203914
geneviewrs118203914
scholarrs118203914
googlers118203914
pharmgkbrs118203914
gwascentralrs118203914
openSNPrs118203914
23andMers118203914
23andMe allrs118203914
SNP Nexus

SNPshotrs118203914
SNPdbers118203914
MSV3drs118203914
OMIM613018
Desc
Variant0001
Relatedalso
ClinVar
Risk rs118203914(T;T)
Alt rs118203914(T;T)
Reference rs118203914(C;C)
Significance Pathogenic
Disease Tyrosinemia type 2
Variation info
Gene TAT
CLNDBN Tyrosinemia type 2
Reversed 1
HGVS NC_000016.9:g.71610150G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000429.1,