rs148942765

Orientation

plus

Stabilized

plus

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

Make rs148942765(C;T)

Make rs148942765(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

56043440

Gene	LOC105369780, RPS26

is a	snp
is	mentioned by
dbSNP	rs148942765
dbSNP (classic)	rs148942765
ClinGen	rs148942765
ebi	rs148942765
HLI	rs148942765
Exac	rs148942765
Gnomad	rs148942765
Varsome	rs148942765
LitVar	rs148942765
Map	rs148942765
PheGenI	rs148942765
Biobank	rs148942765
1000 genomes	rs148942765
hgdp	rs148942765
ensembl	rs148942765
geneview	rs148942765
scholar	rs148942765
google	rs148942765
pharmgkb	rs148942765
gwascentral	rs148942765
openSNP	rs148942765
23andMe	rs148942765
23andMe all	rs148942765
SNPshot	rs148942765
SNPdbe	rs148942765
MSV3d	rs148942765
GWAS Ctlg	rs148942765

Max Magnitude

0

ClinVar
Risk	rs148942765(A;A) rs148942765(T;T)
Alt	rs148942765(A;A) rs148942765(T;T)
Reference	Rs148942765(C;C)
Significance	Pathogenic
Disease	Diamond-Blackfan anemia 10 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
Variation	info
Gene	RPS26
CLNDBN	Diamond-Blackfan anemia 10 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
Reversed	0
HGVS	NC_000012.11:g.56437224C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000167574.4, RCV000191914.1,