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rs770815049

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common/normal
(-;C) 3 Unaffected carrier of a 3HSDB2 deficiency mutation
(C;C) 7 3HSDB2 deficiency; congenital adrenal hyperplasia
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position119422056
GeneHSD3B2
is asnp
is mentioned by
dbSNPrs770815049
ebirs770815049
HLIrs770815049
Exacrs770815049
Varsomers770815049
Maprs770815049
PheGenIrs770815049
hapmaprs770815049
1000 genomesrs770815049
hgdprs770815049
ensemblrs770815049
gopubmedrs770815049
geneviewrs770815049
scholarrs770815049
googlers770815049
pharmgkbrs770815049
gwascentralrs770815049
openSNPrs770815049
23andMers770815049
23andMe allrs770815049
SNP Nexus

SNPshotrs770815049
SNPdbers770815049
MSV3drs770815049
GWAS Ctlgrs770815049
Max Magnitude7
rs770815049, also known as c.555_556insC and p.Thr187Hisfs, represents a rare mutation in the HSD3B2 gene on chromosome 1.