rs587777288

Orientation

plus

Stabilized

minus

Geno	Mag	Summary
(GCCGGGAGGCCCGCGCC;GCCGGGAGGCCCGCGCC)	0	common in clinvar
(GGCGCGGGCCTCCCGGC;GGCGCGGGCCTCCCGGC)	0	common in clinvar
(GGCGCGGGCCTCCCGGCC;GGCGCGGGCCTCCCGGCC)	0	common in clinvar
(I;I)	0	common genotype

Make rs587777288(-;-)

Make rs587777288(-;GCCGGGAGGCCCGCGCC)

Reference

GRCh38 38.1/142

Chromosome

14

Position

94769804

Gene	DIGIT, GSC

is a	snp
is	mentioned by
dbSNP	rs587777288
dbSNP (classic)	rs587777288
ClinGen	rs587777288
ebi	rs587777288
HLI	rs587777288
Exac	rs587777288
Gnomad	rs587777288
Varsome	rs587777288
LitVar	rs587777288
Map	rs587777288
PheGenI	rs587777288
Biobank	rs587777288
1000 genomes	rs587777288
hgdp	rs587777288
ensembl	rs587777288
geneview	rs587777288
scholar	rs587777288
google	rs587777288
pharmgkb	rs587777288
gwascentral	rs587777288
openSNP	rs587777288
23andMe	rs587777288
SNPshot	rs587777288
SNPdbe	rs587777288
MSV3d	rs587777288
GWAS Ctlg	rs587777288

Max Magnitude

0

ClinVar
Risk	Rs587777288(GCCGGGAGGCCCGCGCC;GCCGGGAGGCCCGCGCC) rs587777288(-;-)
Alt	Rs587777288(GCCGGGAGGCCCGCGCC;GCCGGGAGGCCCGCGCC) rs587777288(-;-)
Reference	Rs587777288(GGCGCGGGCCTCCCGGC;GGCGCGGGCCTCCCGGC)
Significance	Pathogenic
Disease	Short stature
Variation	info
Gene	GSC
CLNDBN	Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities
Reversed	1
HGVS	NC_000014.8:g.95236141_95236157del17
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000114411.2,