rs34102339

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in complete genomics

Make rs34102339(G;T)

Make rs34102339(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

177116

Gene

HBA1

is a	snp
is	mentioned by
dbSNP	rs34102339
dbSNP (classic)	rs34102339
ClinGen	rs34102339
ebi	rs34102339
HLI	rs34102339
Exac	rs34102339
Gnomad	rs34102339
Varsome	rs34102339
LitVar	rs34102339
Map	rs34102339
PheGenI	rs34102339
Biobank	rs34102339
1000 genomes	rs34102339
hgdp	rs34102339
ensembl	rs34102339
geneview	rs34102339
scholar	rs34102339
google	rs34102339
pharmgkb	rs34102339
gwascentral	rs34102339
openSNP	rs34102339
23andMe	rs34102339
SNPshot	rs34102339
SNPdbe	rs34102339
MSV3d	rs34102339
GWAS Ctlg	rs34102339

Max Magnitude

0

OMIM	141800
Desc
Variant	0130
Related	also

OMIM	141800
Desc
Variant	0143
Related	also

OMIM	141800
Desc
Variant	0148
Related	also

ClinVar
Risk	rs34102339(A;A) rs34102339(C;C) rs34102339(T;T)
Alt	rs34102339(A;A) rs34102339(C;C) rs34102339(T;T)
Reference	Rs34102339(G;G)
Significance	Other
Disease	HEMOGLOBIN TITUSVILLE HEMOGLOBIN SUNSHINE SETH HEMOGLOBIN SETIF
Variation	info
Gene	HBA1
CLNDBN	HEMOGLOBIN TITUSVILLE HEMOGLOBIN SUNSHINE SETH HEMOGLOBIN SETIF
Reversed	0
HGVS	NC_000016.9:g.227115G>A; NC_000016.9:g.227115G>C; NC_000016.9:g.227115G>T
CLNSRC	HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017167.2, RCV000017163.2, RCV000017151.4,

[PMID 1164512] Haemoglobin Titusville: alpha94 Asp replaced by Asn. A new haemoglobin with a lowered affinity for oxygen.

[PMID 15551405] Hemoglobin Titusville, a low oxygen affinity variant hemoglobin, in a family of Northern European background.