rs727502777

Orientation

minus

Stabilized

minus

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

Make rs727502777(-;CCTGAG)

Make rs727502777(CCTGAG;CCTGAG)

Reference

GRCh38.p2 38.2/144

Chromosome

9

Position

35658023

Gene	CCDC107, RMRP

is a	snp
is	mentioned by
dbSNP	rs727502777
dbSNP (classic)	rs727502777
ClinGen	rs727502777
ebi	rs727502777
HLI	rs727502777
Exac	rs727502777
Gnomad	rs727502777
Varsome	rs727502777
LitVar	rs727502777
Map	rs727502777
PheGenI	rs727502777
Biobank	rs727502777
1000 genomes	rs727502777
hgdp	rs727502777
ensembl	rs727502777
geneview	rs727502777
scholar	rs727502777
google	rs727502777
pharmgkb	rs727502777
gwascentral	rs727502777
openSNP	rs727502777
23andMe	rs727502777
SNPshot	rs727502777
SNPdbe	rs727502777
MSV3d	rs727502777
GWAS Ctlg	rs727502777

Max Magnitude

0

ClinVar
Risk	rs727502777(CCTGAG;CCTGAG) rs727502777(TACTCTGTGAAGCTGAG;TACTCTGTGAAGCTGAG)
Alt	rs727502777(CCTGAG;CCTGAG) rs727502777(TACTCTGTGAAGCTGAG;TACTCTGTGAAGCTGAG)
Reference	Rs727502777(-;-)
Significance	Pathogenic
Disease	Metaphyseal chondrodysplasia
Variation	info
Gene	CCDC107 RMRP
CLNDBN	Metaphyseal chondrodysplasia, McKusick type
Reversed	1
HGVS	NC_000009.11:g.35658020_35658021insCTCAGG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015281.23,