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rs398122990

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 normal
(A;G) 8 “royal disease” also known as hemophilia B or Christmas disease
(G;G) 8 Royal Disease Hemophilia B SNP
ReferenceGRCh38 38.1/141
ChromosomeX
Position139541073
GeneF9
is asnp
is mentioned by
dbSNPrs398122990
ebirs398122990
HLIrs398122990
Exacrs398122990
Varsomers398122990
Maprs398122990
PheGenIrs398122990
hapmaprs398122990
1000 genomesrs398122990
hgdprs398122990
ensemblrs398122990
gopubmedrs398122990
geneviewrs398122990
scholarrs398122990
googlers398122990
pharmgkbrs398122990
gwascentralrs398122990
openSNPrs398122990
23andMers398122990
23andMe allrs398122990
SNP Nexus

SNPshotrs398122990
SNPdbers398122990
MSV3drs398122990
GWAS Ctlgrs398122990
Max Magnitude8
rs398122990 is a SNP in the coagulation factor IX F9 gene, in an intron just upstream of the fourth exon. The F9 gene is on the X chromosome.

In 2009, researchers sequenced bones from the remains of the Nicholas II Romanov family, who were killed in 1918. This family harbored a form of hemophilia known as the “royal disease,” transmitted from Queen Victoria (1819–1901) to European royal families. The sequencing revealed the SNP responsible for their hemophilia, also known as hemophilia B or Christmas disease, to be rs398122990. To be specific, as an X-linked recessive disease, males (such as Prince Alexei) inheriting a rs398122990(G) allele and females inheriting two copies would be hemophiliacs, while rs398122990(A;G) females were unaffected carriers (as was Queen Victoria).[PMID 19815722]

On the suggestion of a Finnish researcher, in 2014 SNPedia submitted this SNP to dbSNP to have it assigned the rs-identifier you now see. It is currently unknown if this "royal disease" rs398122990(G) SNP is extinct world-wide, i.e. no longer present even in a single unaffected carrier somewhere in the world. If through the use of Promethease or other tools this allele, rs398122990(G), is identified in a human genome sequence derived from a living person, please contact us!

This SNP is referred to as i5007022 by 23andMe.


ClinVar
Risk rs398122990(G;G)
Alt rs398122990(G;G)
Reference rs398122990(A;A)
Significance Pathogenic
Disease Hereditary factor IX deficiency disease
Variation info
Gene F9
CLNDBN Hereditary factor IX deficiency disease
Reversed 0
HGVS NC_000023.10:g.138623232A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000077844.3,