rs727502779

Orientation

minus

Stabilized

minus

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

Make rs727502779(-;TCTGTGAAGCTGGGGAC)

Make rs727502779(TCTGTGAAGCTGGGGAC;TCTGTGAAGCTGGGGAC)

Reference

GRCh38.p2 38.2/144

Chromosome

9

Position

35658037

Gene	CCDC107, RMRP

is a	snp
is	mentioned by
dbSNP	rs727502779
dbSNP (classic)	rs727502779
ClinGen	rs727502779
ebi	rs727502779
HLI	rs727502779
Exac	rs727502779
Gnomad	rs727502779
Varsome	rs727502779
LitVar	rs727502779
Map	rs727502779
PheGenI	rs727502779
Biobank	rs727502779
1000 genomes	rs727502779
hgdp	rs727502779
ensembl	rs727502779
geneview	rs727502779
scholar	rs727502779
google	rs727502779
pharmgkb	rs727502779
gwascentral	rs727502779
openSNP	rs727502779
23andMe	rs727502779
SNPshot	rs727502779
SNPdbe	rs727502779
MSV3d	rs727502779
GWAS Ctlg	rs727502779

Max Magnitude

0

ClinVar
Risk	rs727502779(GGGACTCTGTGAAGCTG;GGGACTCTGTGAAGCTG)
Alt	rs727502779(GGGACTCTGTGAAGCTG;GGGACTCTGTGAAGCTG)
Reference	Rs727502779(-;-)
Significance	Pathogenic
Disease	Metaphyseal dysplasia without hypotrichosis
Variation	info
Gene	CCDC107 RMRP
CLNDBN	Metaphyseal dysplasia without hypotrichosis
Reversed	1
HGVS	NC_000009.11:g.35658034_35658035insGTCCCCAGCTTCACAGA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015287.28,