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rs1057519613

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519613(G;T)
Make rs1057519613(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position94253672
GeneSMARCAD1
is asnp
is mentioned by
dbSNPrs1057519613
dbSNP (old)rs1057519613
ClinGenrs1057519613
ebirs1057519613
HLIrs1057519613
Exacrs1057519613
Gnomadrs1057519613
Varsomers1057519613
Maprs1057519613
PheGenIrs1057519613
Biobankrs1057519613
1000 genomesrs1057519613
hgdprs1057519613
ensemblrs1057519613
gopubmedrs1057519613
geneviewrs1057519613
scholarrs1057519613
googlers1057519613
pharmgkbrs1057519613
gwascentralrs1057519613
openSNPrs1057519613
23andMers1057519613
23andMe allrs1057519613
SNPshotrs1057519613
SNPdbers1057519613
MSV3drs1057519613
GWAS Ctlgrs1057519613
Max Magnitude0
ClinVar
Risk rs1057519613(A;A) rs1057519613(T;T)
Alt rs1057519613(A;A) rs1057519613(T;T)
Reference Rs1057519613(G;G)
Significance Pathogenic
Disease Adermatoglyphia Basan syndrome
Variation info
Gene SMARCAD1
CLNDBN Adermatoglyphia Basan syndrome
Reversed 0
HGVS NC_000004.11:g.95174823G>A; NC_000004.11:g.95174823G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000167533.4, RCV000023972.4, RCV000417757.1,