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rs727504412

From SNPedia

Orientationminus
Geno Mag Summary
(CAGT;CAGT) 0 common in clinvar
Make rs727504412(-;-)
Make rs727504412(-;CAGT)
ReferenceGRCh38.p2 38.2/144
Chromosome20
Position10645245
GeneJAG1
is asnp
is mentioned by
dbSNPrs727504412
ebirs727504412
HLIrs727504412
Exacrs727504412
Varsomers727504412
Maprs727504412
PheGenIrs727504412
hapmaprs727504412
1000 genomesrs727504412
hgdprs727504412
ensemblrs727504412
gopubmedrs727504412
geneviewrs727504412
scholarrs727504412
googlers727504412
pharmgkbrs727504412
gwascentralrs727504412
openSNPrs727504412
23andMers727504412
23andMe allrs727504412
SNP Nexus

SNPshotrs727504412
SNPdbers727504412
MSV3drs727504412
GWAS Ctlgrs727504412
Max Magnitude0
ClinVar
Risk rs727504412(;)
Alt rs727504412(;)
Reference rs727504412(CAGT;CAGT)
Significance Pathogenic
Disease Alagille syndrome 1 not provided
Variation info
Gene JAG1
CLNDBN Alagille syndrome 1 not provided
Reversed 1
HGVS NC_000020.10:g.10625893_10625896delACTG
CLNSRC
CLNACC RCV000154602.1, RCV000199484.2,