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rs786200980

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786200980(-;-)
Make rs786200980(-;G)
Make rs786200980(G;G)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position134475258
GeneHPRT1
is asnp
is mentioned by
dbSNPrs786200980
ebirs786200980
HLIrs786200980
Exacrs786200980
Varsomers786200980
Maprs786200980
PheGenIrs786200980
hapmaprs786200980
1000 genomesrs786200980
hgdprs786200980
ensemblrs786200980
gopubmedrs786200980
geneviewrs786200980
scholarrs786200980
googlers786200980
pharmgkbrs786200980
gwascentralrs786200980
openSNPrs786200980
23andMers786200980
23andMe allrs786200980
SNP Nexus

SNPshotrs786200980
SNPdbers786200980
MSV3drs786200980
GWAS Ctlgrs786200980
Max Magnitude0
ClinVar
Risk rs786200980(G;G)
Alt rs786200980(G;G)
Reference rs786200980(;)
Significance Pathogenic
Disease Lesch-Nyhan syndrome
Variation info
Gene HPRT1
CLNDBN Lesch-Nyhan syndrome
Reversed 0
HGVS NC_000023.10:g.133609288dupG
CLNSRC HGMD
CLNACC RCV000153367.3,