rs201908137

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;C)	3	Carrier of a hemophagocytic lymphohistiocytosis (HLH) mutation
(C;C)	0	common in clinvar

Make rs201908137(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

75840506

Gene

UNC13D

is a	snp
is	mentioned by
dbSNP	rs201908137
dbSNP (classic)	rs201908137
ClinGen	rs201908137
ebi	rs201908137
HLI	rs201908137
Exac	rs201908137
Gnomad	rs201908137
Varsome	rs201908137
LitVar	rs201908137
Map	rs201908137
PheGenI	rs201908137
Biobank	rs201908137
1000 genomes	rs201908137
hgdp	rs201908137
ensembl	rs201908137
geneview	rs201908137
scholar	rs201908137
google	rs201908137
pharmgkb	rs201908137
gwascentral	rs201908137
openSNP	rs201908137
23andMe	rs201908137
SNPshot	rs201908137
SNPdbe	rs201908137
MSV3d	rs201908137
GWAS Ctlg	rs201908137

Max Magnitude

3

aka c.753+1G>T

considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar

ClinVar
Risk	rs201908137(A;A)
Alt	rs201908137(A;A)
Reference	Rs201908137(C;C)
Significance	Pathogenic
Disease	Hemophagocytic lymphohistiocytosis not provided
Variation	info
Gene	UNC13D
CLNDBN	Hemophagocytic lymphohistiocytosis, familial, 3 not provided
Reversed	0
HGVS	NC_000017.10:g.73836587C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002078.5, RCV000288588.1,