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rs879255539

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTGTG;CTGTG) 0 common in clinvar
Make rs879255539(AGA;AGA)
Make rs879255539(AGA;CTGTG)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position19003070
GeneADGRG2, LOC101928415
is asnp
is mentioned by
dbSNPrs879255539
dbSNP (classic)rs879255539
ClinGenrs879255539
ebirs879255539
HLIrs879255539
Exacrs879255539
Gnomadrs879255539
Varsomers879255539
LitVarrs879255539
Maprs879255539
PheGenIrs879255539
Biobankrs879255539
1000 genomesrs879255539
hgdprs879255539
ensemblrs879255539
geneviewrs879255539
scholarrs879255539
googlers879255539
pharmgkbrs879255539
gwascentralrs879255539
openSNPrs879255539
23andMers879255539
SNPshotrs879255539
SNPdbers879255539
MSV3drs879255539
GWAS Ctlgrs879255539
Max Magnitude0
ClinVar
Risk rs879255539(AGA;AGA)
Alt rs879255539(AGA;AGA)
Reference Rs879255539(CTGTG;CTGTG)
Significance Pathogenic
Disease Congenital bilateral absence of the vas deferens Vas deferens
Variation info
Gene ADGRG2 LOC101928415
CLNDBN Congenital bilateral absence of the vas deferens Vas deferens, congenital bilateral aplasia of, X-linked
Reversed 1
HGVS NC_000023.10:g.19021188_19021192delCACAGinsTCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000239601.1, RCV000242233.1,