Rs118203915

From SNPedia
Jump to: navigation, search

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203915(C;G)
Make rs118203915(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position71572224
GeneDRP2, TAT
is asnp
is mentioned by
dbSNPrs118203915
Exacrs118203915
PheGenIrs118203915
nextbiors118203915
hapmaprs118203915
1000 genomesrs118203915
hgdprs118203915
ensemblrs118203915
gopubmedrs118203915
geneviewrs118203915
scholarrs118203915
googlers118203915
pharmgkbrs118203915
gwascentralrs118203915
openSNPrs118203915
23andMers118203915
23andMe allrs118203915
SNP Nexus

SNPshotrs118203915
SNPdbers118203915
MSV3drs118203915
OMIM613018
Desc
Variant0002
Relatedalso
ClinVar
Risk rs118203915(G;G)
Alt rs118203915(G;G)
Reference rs118203915(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.71606127G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000430.1,