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rs115604088

From SNPedia

Orientationplus
Stabilizedplus
Make rs115604088(A;A)
Make rs115604088(A;G)
Make rs115604088(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position202376806
GeneBMPR2
is asnp
is mentioned by
dbSNPrs115604088
dbSNP (old)rs115604088
ClinGenrs115604088
ebirs115604088
HLIrs115604088
Exacrs115604088
Gnomadrs115604088
Varsomers115604088
Maprs115604088
PheGenIrs115604088
Biobankrs115604088
1000 genomesrs115604088
hgdprs115604088
ensemblrs115604088
gopubmedrs115604088
geneviewrs115604088
scholarrs115604088
googlers115604088
pharmgkbrs115604088
gwascentralrs115604088
openSNPrs115604088
23andMers115604088
23andMe allrs115604088
SNPshotrs115604088
SNPdbers115604088
MSV3drs115604088
GWAS Ctlgrs115604088
Max Magnitude

[PMID 27569544OA-icon.png] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.

ClinVar
Risk rs115604088(A;A)
Alt rs115604088(A;A)
Reference rs115604088(G;G)
Significance Other
Disease Primary pulmonary hypertension
Variation info
Gene BMPR2
CLNDBN Primary pulmonary hypertension
Reversed 0
HGVS NC_000002.11:g.203241529G>A
CLNSRC Illumina
CLNACC RCV000383967.1,