rs387906539

Orientation

minus

Stabilized

minus

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

Make rs387906539(C;C)

Make rs387906539(C;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

7184592

Gene

INSR

is a	snp
is	mentioned by
dbSNP	rs387906539
dbSNP (classic)	rs387906539
ClinGen	rs387906539
ebi	rs387906539
HLI	rs387906539
Exac	rs387906539
Gnomad	rs387906539
Varsome	rs387906539
LitVar	rs387906539
Map	rs387906539
PheGenI	rs387906539
Biobank	rs387906539
1000 genomes	rs387906539
hgdp	rs387906539
ensembl	rs387906539
geneview	rs387906539
scholar	rs387906539
google	rs387906539
pharmgkb	rs387906539
gwascentral	rs387906539
openSNP	rs387906539
23andMe	rs387906539
SNPshot	rs387906539
SNPdbe	rs387906539
MSV3d	rs387906539
GWAS Ctlg	rs387906539

Max Magnitude

0

ClinVar
Risk	rs387906539(C;C)
Alt	rs387906539(C;C)
Reference	Rs387906539(T;T)
Significance	Pathogenic
Disease	Leprechaunism syndrome
Variation	info
Gene
CLNDBN	Leprechaunism syndrome
Reversed	1
HGVS	NC_000019.9:g.7184603A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015804.2,