Difference between revisions of "Rs58410481"

Latest revision as of 09:00, 7 December 2019

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Reference

GRCh37 37.1/132

Chromosome

17

Position

40866784

Gene	KRT12, LOC105371777

0

ClinVar
Risk	rs58410481(G;G)
Alt	rs58410481(G;G)
Reference	Rs58410481(A;A)
Significance	Pathogenic
Disease	Meesman's corneal dystrophy not provided
Variation	info
Gene	KRT12
CLNDBN	Meesman's corneal dystrophy not provided
Reversed	1
HGVS	NC_000017.10:g.39023036T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008385.4, RCV000056420.1,

@@ Line 1: / Line 1: @@
 {{Rsnum
 |rsid=58410481
+|Chromosome=17
+|Orientation=minus
+|geno1=(A;A)
+|geno2=(A;G)
+|geno3=(G;G)
+|Gene=KRT12
+|position=40866784
+|Assembly=GRCh37
+|GenomeBuild=37.1
+|dbSNPBuild=132
+|StabilizedOrientation=minus
+|Gene_s=KRT12,LOC105371777
+}}{{omim
+|id=601687
+|rsnum=58410481
+|variant=0003
 }}
-{{omim
+{{ClinVar
-|id=601687
+|rsid=58410481
-|variant=0003
+|Reversed=1
-|rsnum=58410481
+|FwdREF=A
+|FwdALT=G
+|REF=T
+|ALT=C
+|RSPOS=39023036
+|CHROM=17
+|dbSNPBuildID=133
+|SSR=0
+|SAO=1
+|VP=0x050168000a05000002110100
+|GENEINFO=KRT12:3859
+|GENE_NAME=KRT12
+|GENE_ID=3859
+|WGT=1
+|VC=SNV
+|CLNALLE=1
+|CLNHGVS=NC_000017.10:g.39023036T>C
+|CLNSRC=OMIM Allelic Variant; UniProtKB (protein)
+|CLNORIGIN=1
+|CLNSRCID=601687.0003; Q99456#VAR_008526
+|CLNSIG=5
+|CLNCUI=C0339277
+|CLNDBN=Meesman's corneal dystrophy; not provided
+|Disease=Meesman's corneal dystrophy; not provided
+|CLNACC=RCV000008385.4; RCV000056420.1
+|Tags=RV;PM;PMC;SLO;NSM;REF;ASP;LSD;OM
+|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT; MedGen
+|CLNDSDBID=C0339277:122100:ORPHA98954:1674008; CN221809
+|CLNREVSTAT=no_criteria; no_assertion
 }}
+{{on chip | 23andMe v3}}
+{{on chip | 23andMe v4}}
+{{on chip | Ancestry v2}}
+{{on chip | Ancestry v2c}}
+{{on chip | Ancestry v2d}}