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rs1057519168

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057519168(-;TGCGGGAG)
Make rs1057519168(TGCGGGAG;TGCGGGAG)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position51920783
GeneACVRL1
is asnp
is mentioned by
dbSNPrs1057519168
dbSNP (old)rs1057519168
ClinGenrs1057519168
ebirs1057519168
HLIrs1057519168
Exacrs1057519168
Gnomadrs1057519168
Varsomers1057519168
Maprs1057519168
PheGenIrs1057519168
Biobankrs1057519168
1000 genomesrs1057519168
hgdprs1057519168
ensemblrs1057519168
gopubmedrs1057519168
geneviewrs1057519168
scholarrs1057519168
googlers1057519168
pharmgkbrs1057519168
gwascentralrs1057519168
openSNPrs1057519168
23andMers1057519168
23andMe allrs1057519168
SNPshotrs1057519168
SNPdbers1057519168
MSV3drs1057519168
GWAS Ctlgrs1057519168
Max Magnitude0
ClinVar
Risk rs1057519168(TGCGGGAG;TGCGGGAG)
Alt rs1057519168(TGCGGGAG;TGCGGGAG)
Reference Rs1057519168(-;-)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene ACVRL1
CLNDBN not provided
Reversed 0
HGVS NC_000012.11:g.52314567_52314568insTGCGGGAG
CLNSRC
CLNACC RCV000415834.1,