rs2072081

minus

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

Make rs2072081(A;A)

Make rs2072081(A;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

44250125

Gene

SLC4A1

is a	snp
is	mentioned by
dbSNP	rs2072081
dbSNP (classic)	rs2072081
ClinGen	rs2072081
ebi	rs2072081
HLI	rs2072081
Exac	rs2072081
Gnomad	rs2072081
Varsome	rs2072081
LitVar	rs2072081
Map	rs2072081
PheGenI	rs2072081
Biobank	rs2072081
1000 genomes	rs2072081
hgdp	rs2072081
ensembl	rs2072081
geneview	rs2072081
scholar	rs2072081
google	rs2072081
pharmgkb	rs2072081
gwascentral	rs2072081
openSNP	rs2072081
23andMe	rs2072081
SNPshot	rs2072081
SNPdbe	rs2072081
MSV3d	rs2072081
GWAS Ctlg	rs2072081

GMAF

0.4371

Max Magnitude

0

?

(A;A) (A;C) (C;C)

28

[PMID 22393410 ] Loss and Gain of Function in SERPINB11: An Example of a Gene under Selection on Standing Variation, with Implications for Host-Pathogen Interactions

ClinVar
Risk	rs2072081(A;A)
Alt	rs2072081(A;A)
Reference	Rs2072081(C;C)
Significance	Probable-non-pathogenic
Disease	Spherocytosis Hemolytic anemia Distal Renal Tubular Acidosis
Variation	info
Gene	SLC4A1
CLNDBN	Spherocytosis, Dominant Hemolytic anemia Distal Renal Tubular Acidosis, Dominant
Reversed	1
HGVS	NC_000017.10:g.42327493G>T
CLNSRC
CLNACC	RCV000265877.1, RCV000324493.1, RCV000379031.1,