rs727502778

Orientation

minus

Stabilized

minus

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

Make rs727502778(-;TCTGTGAAGCTGAGGAC)

Make rs727502778(TCTGTGAAGCTGAGGAC;TCTGTGAAGCTGAGGAC)

Reference

GRCh38.p2 38.2/144

Chromosome

9

Position

35658020

Gene	CCDC107, RMRP

is a	snp
is	mentioned by
dbSNP	rs727502778
dbSNP (classic)	rs727502778
ClinGen	rs727502778
ebi	rs727502778
HLI	rs727502778
Exac	rs727502778
Gnomad	rs727502778
Varsome	rs727502778
LitVar	rs727502778
Map	rs727502778
PheGenI	rs727502778
Biobank	rs727502778
1000 genomes	rs727502778
hgdp	rs727502778
ensembl	rs727502778
geneview	rs727502778
scholar	rs727502778
google	rs727502778
pharmgkb	rs727502778
gwascentral	rs727502778
openSNP	rs727502778
23andMe	rs727502778
SNPshot	rs727502778
SNPdbe	rs727502778
MSV3d	rs727502778
GWAS Ctlg	rs727502778

Max Magnitude

0

ClinVar
Risk	rs727502778(ATACTACTCTGTGAAGCTGAGGAC;ATACTACTCTGTGAAGCTGAGGAC) rs727502778(TCTGTGAAGCTGAGGAC;TCTGTGAAGCTGAGGAC)
Alt	rs727502778(ATACTACTCTGTGAAGCTGAGGAC;ATACTACTCTGTGAAGCTGAGGAC) rs727502778(TCTGTGAAGCTGAGGAC;TCTGTGAAGCTGAGGAC)
Reference	Rs727502778(-;-)
Significance	Pathogenic
Disease	Metaphyseal chondrodysplasia
Variation	info
Gene	CCDC107 RMRP
CLNDBN	Metaphyseal chondrodysplasia, McKusick type
Reversed	1
HGVS	NC_000009.11:g.35658018_35658034dup17
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015282.27,