SNP Links for Gene (Select 3039) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 20 of 1189

<< First< Prev

Page of 60

Next >Last >>

Select item 14907464251.

rs1490746425 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 16:177385 (GRCh38)
16:227384 (GRCh37)
Canonical SPDI:: NC_000016.10:177383:CAC:C
Gene:: HBA1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.177385_177386del, NC_000016.9:g.227384_227385del, NG_000006.1:g.38248_38249del, NG_059186.1:g.5735_5736del, NM_000558.5:c.403_404del, NM_000558.4:c.403_404del, NM_000558.3:c.403_404del, NG_046166.1:g.2868_2869del, NP_000549.1:p.Thr135fs

Select item 14905839452.

rs1490583945 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:177763 (GRCh38)
16:227762 (GRCh37)
Canonical SPDI:: NC_000016.10:177762:C:T
Gene:: HBA1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.177763C>T, NC_000016.9:g.227762C>T, NG_000006.1:g.38626C>T, NG_059186.1:g.6113C>T

Select item 14902576333.

rs1490257633 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:176965 (GRCh38)
16:226964 (GRCh37)
Canonical SPDI:: NC_000016.10:176964:C:T
Gene:: HBA1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.176965C>T, NC_000016.9:g.226964C>T, NG_000006.1:g.37828C>T, NG_059186.1:g.5315C>T, NM_000558.5:c.132C>T, NM_000558.4:c.132C>T, NM_000558.3:c.132C>T, NG_046166.1:g.2448C>T

Select item 14891406524.

rs1489140652 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:176621 (GRCh38)
16:226620 (GRCh37)
Canonical SPDI:: NC_000016.10:176620:G:T
Gene:: HBA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.176621G>T, NC_000016.9:g.226620G>T, NG_000006.1:g.37484G>T, NG_059186.1:g.4971G>T, NG_046166.1:g.2104G>T

Select item 14891089035.

rs1489108903 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 16:175728 (GRCh38)
16:225727 (GRCh37)
Canonical SPDI:: NC_000016.10:175727:T:A,NC_000016.10:175727:T:C
Gene:: HBA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.175728T>A, NC_000016.10:g.175728T>C, NC_000016.9:g.225727T>A, NC_000016.9:g.225727T>C, NG_000006.1:g.36591T>A, NG_000006.1:g.36591T>C, NG_059186.1:g.4078T>A, NG_059186.1:g.4078T>C, NG_046166.1:g.1211T>A, NG_046166.1:g.1211T>C

Select item 14874525036.

rs1487452503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:176457 (GRCh38)
16:226456 (GRCh37)
Canonical SPDI:: NC_000016.10:176456:G:A
Gene:: HBA1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.176457G>A, NC_000016.9:g.226456G>A, NG_000006.1:g.37320G>A, NG_059186.1:g.4807G>A, NG_046166.1:g.1940G>A

Select item 14874211977.

rs1487421197 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:177244 (GRCh38)
16:227243 (GRCh37)
Canonical SPDI:: NC_000016.10:177243:C:T
Gene:: HBA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.177244C>T, NC_000016.9:g.227243C>T, NG_000006.1:g.38107C>T, NG_059186.1:g.5594C>T, NG_046166.1:g.2727C>T

Select item 14866699028.

rs1486669902 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:175041 (GRCh38)
16:225040 (GRCh37)
Canonical SPDI:: NC_000016.10:175040:A:C
Gene:: HBA1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.175041A>C, NC_000016.9:g.225040A>C, NG_000006.1:g.35904A>C, NG_059186.1:g.3391A>C, NG_059271.1:g.7195A>C, NG_046166.1:g.524A>C

Select item 14859455989.

rs1485945598 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:175763 (GRCh38)
16:225762 (GRCh37)
Canonical SPDI:: NC_000016.10:175762:G:A
Gene:: HBA1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.175763G>A, NC_000016.9:g.225762G>A, NG_000006.1:g.36626G>A, NG_059186.1:g.4113G>A, NG_046166.1:g.1246G>A

Select item 148590919510.

rs1485909195 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:175259 (GRCh38)
16:225258 (GRCh37)
Canonical SPDI:: NC_000016.10:175258:G:A,NC_000016.10:175258:G:T
Gene:: HBA1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.175259G>A, NC_000016.10:g.175259G>T, NC_000016.9:g.225258G>A, NC_000016.9:g.225258G>T, NG_000006.1:g.36122G>A, NG_000006.1:g.36122G>T, NG_059186.1:g.3609G>A, NG_059186.1:g.3609G>T, NG_059271.1:g.7413G>A, NG_059271.1:g.7413G>T, NG_046166.1:g.742G>A, NG_046166.1:g.742G>T

Select item 148587922311.

rs1485879223 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:176154 (GRCh38)
16:226153 (GRCh37)
Canonical SPDI:: NC_000016.10:176153:T:C
Gene:: HBA1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.176154T>C, NC_000016.9:g.226153T>C, NG_000006.1:g.37017T>C, NG_059186.1:g.4504T>C, NG_046166.1:g.1637T>C

Select item 148584060212.

rs1485840602 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:177486 (GRCh38)
16:227485 (GRCh37)
Canonical SPDI:: NC_000016.10:177485:C:T
Gene:: HBA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.177486C>T, NC_000016.9:g.227485C>T, NG_000006.1:g.38349C>T, NG_059186.1:g.5836C>T, NM_000558.5:c.*75C>T, NM_000558.4:c.*75C>T, NM_000558.3:c.*75C>T, NG_046166.1:g.2969C>T

Select item 148583994613.

rs1485839946 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:176304 (GRCh38)
16:226303 (GRCh37)
Canonical SPDI:: NC_000016.10:176303:G:A,NC_000016.10:176303:G:T
Gene:: HBA1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.176304G>A, NC_000016.10:g.176304G>T, NC_000016.9:g.226303G>A, NC_000016.9:g.226303G>T, NG_000006.1:g.37167G>A, NG_000006.1:g.37167G>T, NG_059186.1:g.4654G>A, NG_059186.1:g.4654G>T, NG_046166.1:g.1787G>A, NG_046166.1:g.1787G>T

Select item 148496307714.

rs1484963077 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:177023 (GRCh38)
16:227022 (GRCh37)
Canonical SPDI:: NC_000016.10:177022:G:A
Gene:: HBA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.177023G>A, NC_000016.9:g.227022G>A, NG_000006.1:g.37886G>A, NG_059186.1:g.5373G>A, NM_000558.5:c.190G>A, NM_000558.4:c.190G>A, NM_000558.3:c.190G>A, NG_046166.1:g.2506G>A, NP_000549.1:p.Ala64Thr

Select item 148486380115.

rs1484863801 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:174827 (GRCh38)
16:224826 (GRCh37)
Canonical SPDI:: NC_000016.10:174826:G:A,NC_000016.10:174826:G:T
Gene:: HBA1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000051/7 (GnomAD)
A=0.000106/2 (TOMMO)
HGVS:: NC_000016.10:g.174827G>A, NC_000016.10:g.174827G>T, NC_000016.9:g.224826G>A, NC_000016.9:g.224826G>T, NG_000006.1:g.35690G>A, NG_000006.1:g.35690G>T, NG_059186.1:g.3177G>A, NG_059186.1:g.3177G>T, NG_059271.1:g.6981G>A, NG_059271.1:g.6981G>T, NG_046166.1:g.310G>A, NG_046166.1:g.310G>T

Select item 148438138216.

rs1484381382 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:174784 (GRCh38)
16:224783 (GRCh37)
Canonical SPDI:: NC_000016.10:174783:C:T
Gene:: HBA1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.174784C>T, NC_000016.9:g.224783C>T, NG_000006.1:g.35647C>T, NG_059186.1:g.3134C>T, NG_059271.1:g.6938C>T, NG_046166.1:g.267C>T

Select item 148435715217.

rs1484357152 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:176522 (GRCh38)
16:226521 (GRCh37)
Canonical SPDI:: NC_000016.10:176521:G:A
Gene:: HBA1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.176522G>A, NC_000016.9:g.226521G>A, NG_000006.1:g.37385G>A, NG_059186.1:g.4872G>A, NG_046166.1:g.2005G>A

Select item 148391430918.

rs1483914309 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:177417 (GRCh38)
16:227416 (GRCh37)
Canonical SPDI:: NC_000016.10:177416:A:G
Gene:: HBA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.177417A>G, NC_000016.9:g.227416A>G, NG_000006.1:g.38280A>G, NG_059186.1:g.5767A>G, NM_000558.5:c.*6A>G, NM_000558.4:c.*6A>G, NM_000558.3:c.*6A>G, NG_046166.1:g.2900A>G

Select item 148300083619.

rs1483000836 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:177473 (GRCh38)
16:227472 (GRCh37)
Canonical SPDI:: NC_000016.10:177472:T:C
Gene:: HBA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: C=0.000036/5 (GnomAD)
C=0.000177/3 (TOMMO)
C=0.001093/7 (1000Genomes)
HGVS:: NC_000016.10:g.177473T>C, NC_000016.9:g.227472T>C, NG_000006.1:g.38336T>C, NG_059186.1:g.5823T>C, NM_000558.5:c.*62T>C, NM_000558.4:c.*62T>C, NM_000558.3:c.*62T>C, NG_046166.1:g.2956T>C

Select item 148108172720.

rs1481081727 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:175980 (GRCh38)
16:225979 (GRCh37)
Canonical SPDI:: NC_000016.10:175979:G:A,NC_000016.10:175979:G:C
Gene:: HBA1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.175980G>A, NC_000016.10:g.175980G>C, NC_000016.9:g.225979G>A, NC_000016.9:g.225979G>C, NG_000006.1:g.36843G>A, NG_000006.1:g.36843G>C, NG_059186.1:g.4330G>A, NG_059186.1:g.4330G>C, NG_046166.1:g.1463G>A, NG_046166.1:g.1463G>C

<< First< Prev

Page of 60

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Gene (Select 3039) (1189)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: