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rs777695770

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs777695770(G;T)
Make rs777695770(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position108903235
GeneGPSM2
is asnp
is mentioned by
dbSNPrs777695770
dbSNP (classic)rs777695770
ClinGenrs777695770
ebirs777695770
HLIrs777695770
Exacrs777695770
Gnomadrs777695770
Varsomers777695770
LitVarrs777695770
Maprs777695770
PheGenIrs777695770
Biobankrs777695770
1000 genomesrs777695770
hgdprs777695770
ensemblrs777695770
geneviewrs777695770
scholarrs777695770
googlers777695770
pharmgkbrs777695770
gwascentralrs777695770
openSNPrs777695770
23andMers777695770
SNPshotrs777695770
SNPdbers777695770
MSV3drs777695770
GWAS Ctlgrs777695770
Max Magnitude0
ClinVar
Risk rs777695770(T;T)
Alt rs777695770(T;T)
Reference Rs777695770(G;G)
Significance Pathogenic
Disease Chudley-McCullough syndrome
Variation info
Gene GPSM2
CLNDBN Chudley-McCullough syndrome
Reversed 0
HGVS NC_000001.10:g.109445857G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000029166.5,