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rs797044479

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs797044479(AG;TAAACTTTACCT)
Make rs797044479(TAAACTTTACCT;TAAACTTTACCT)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position63792442
GeneSERPINB7
is asnp
is mentioned by
dbSNPrs797044479
ClinGenrs797044479
ebirs797044479
HLIrs797044479
Exacrs797044479
Varsomers797044479
Maprs797044479
PheGenIrs797044479
hapmaprs797044479
1000 genomesrs797044479
hgdprs797044479
ensemblrs797044479
gopubmedrs797044479
geneviewrs797044479
scholarrs797044479
googlers797044479
pharmgkbrs797044479
gwascentralrs797044479
openSNPrs797044479
23andMers797044479
23andMe allrs797044479
SNP Nexus

SNPshotrs797044479
SNPdbers797044479
MSV3drs797044479
GWAS Ctlgrs797044479
Max Magnitude0
ClinVar
Risk rs797044479(TAAACTTTACCT;TAAACTTTACCT)
Alt rs797044479(TAAACTTTACCT;TAAACTTTACCT)
Reference Rs797044479(AG;AG)
Significance Pathogenic
Disease Palmoplantar keratoderma
Variation info
Gene SERPINB7
CLNDBN Palmoplantar keratoderma, nagashima type
Reversed 0
HGVS NC_000018.9:g.61459676_61459677delAGinsTAAACTTTACCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000088683.4,