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rs16879498

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs16879498(C;T)
Make rs16879498(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position49612534
GeneRHAG
is asnp
is mentioned by
dbSNPrs16879498
ebirs16879498
HLIrs16879498
Exacrs16879498
Varsomers16879498
Maprs16879498
PheGenIrs16879498
hapmaprs16879498
1000 genomesrs16879498
hgdprs16879498
ensemblrs16879498
gopubmedrs16879498
geneviewrs16879498
scholarrs16879498
googlers16879498
pharmgkbrs16879498
gwascentralrs16879498
openSNPrs16879498
23andMers16879498
23andMe allrs16879498
SNP Nexus

SNPshotrs16879498
SNPdbers16879498
MSV3drs16879498
GWAS Ctlgrs16879498
GMAF0.05142
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM180297
DescRH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE
Variant0009
Relatedalso
Neighborrs28933991
Distance28


ClinVar
Risk rs16879498(T;T)
Alt rs16879498(T;T)
Reference rs16879498(C;C)
Significance Pathogenic
Disease Rh-null hemolytic anemia
Variation info
Gene RHAG
CLNDBN Rh-null hemolytic anemia, regulator type
Reversed 0
HGVS NC_000006.11:g.49580247C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013940.24,



GET Evidence
RHAG-V270I
aa_change Val270Ile
aa_change_short V270I
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.038483
summary This variant was found as a compound heterozygote (with G280R) in a Japanese individual with Rhnull disorder.