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rs201118996

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201118996(A;A)
Make rs201118996(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position30924226
GeneGALNT14
is asnp
is mentioned by
dbSNPrs201118996
dbSNP (classic)rs201118996
ClinGenrs201118996
ebirs201118996
HLIrs201118996
Exacrs201118996
Gnomadrs201118996
Varsomers201118996
LitVarrs201118996
Maprs201118996
PheGenIrs201118996
Biobankrs201118996
1000 genomesrs201118996
hgdprs201118996
ensemblrs201118996
geneviewrs201118996
scholarrs201118996
googlers201118996
pharmgkbrs201118996
gwascentralrs201118996
openSNPrs201118996
23andMers201118996
SNPshotrs201118996
SNPdbers201118996
MSV3drs201118996
GWAS Ctlgrs201118996
Max Magnitude0
ClinVar
Risk rs201118996(A;A)
Alt rs201118996(A;A)
Reference Rs201118996(G;G)
Significance Probable-Pathogenic
Disease Non-immune hydrops fetalis
Variation info
Gene GALNT14
CLNDBN Non-immune hydrops fetalis
Reversed 0
HGVS NC_000002.11:g.31147092G>A
CLNSRC
CLNACC RCV000170583.1,