SNP Links for Gene (Select 157848) - SNP

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Select item 14915258311.

rs1491525831 has merged into rs1480415849 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT [Show Flanks]
Chromosome:: 8:41651043 (GRCh38)
8:41508562 (GRCh37)
Canonical SPDI:: NC_000008.11:41651028:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000008.11:41651028:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000008.11:41651028:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000008.11:41651028:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:41651028:GTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT
Gene:: NKX6-3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.01059/5 (NorthernSweden)
HGVS:: NC_000008.11:g.41651029GT[7], NC_000008.11:g.41651029GT[9], NC_000008.11:g.41651029GT[10], NC_000008.11:g.41651029GT[11], NC_000008.11:g.41651029GT[12], NC_000008.10:g.41508548GT[7], NC_000008.10:g.41508548GT[9], NC_000008.10:g.41508548GT[10], NC_000008.10:g.41508548GT[11], NC_000008.10:g.41508548GT[12]

Select item 14914150802.

rs1491415080 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TT [Show Flanks]
Chromosome:: 8:41651029 (GRCh38)
8:41508549 (GRCh37)
Canonical SPDI:: NC_000008.11:41651029:T:TTT
Gene:: NKX6-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
TT=0.000035/1 (TOMMO)
TT=0.000052/7 (GnomAD)
HGVS:: NC_000008.11:g.41651030_41651031insTT, NC_000008.10:g.41508549_41508550insTT

Select item 14913701603.

rs1491370160 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TG,TGTG,TGTGTG [Show Flanks]
Chromosome:: 8:41651026 (GRCh38)
8:41508546 (GRCh37)
Canonical SPDI:: NC_000008.11:41651026:G:GTG,NC_000008.11:41651026:G:GTGTG,NC_000008.11:41651026:G:GTGTGTG
Gene:: NKX6-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTG=0./0 (ALFA)
GT=0.01338/8 (NorthernSweden)
HGVS:: NC_000008.11:g.41651027_41651028insTG, NC_000008.11:g.41651027_41651028insTGTG, NC_000008.11:g.41651028TG[3], NC_000008.10:g.41508546_41508547insTG, NC_000008.10:g.41508546_41508547insTGTG, NC_000008.10:g.41508547TG[3]

Select item 14907899044.

rs1490789904 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:41650652 (GRCh38)
8:41508171 (GRCh37)
Canonical SPDI:: NC_000008.11:41650651:C:G,NC_000008.11:41650651:C:T
Gene:: NKX6-3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.41650652C>G, NC_000008.11:g.41650652C>T, NC_000008.10:g.41508171C>G, NC_000008.10:g.41508171C>T, NM_001364841.2:c.-160G>C, NM_001364841.2:c.-160G>A, NM_001364841.1:c.-160G>C, NM_001364841.1:c.-160G>A

Select item 14905132125.

rs1490513212 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 8:41648096 (GRCh38)
8:41505615 (GRCh37)
Canonical SPDI:: NC_000008.11:41648095:G:C,NC_000008.11:41648095:G:T
Gene:: NKX6-3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,stop_gained,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000007/1 (GnomAD_exomes)
C=0.000045/12 (TOPMED)
HGVS:: NC_000008.11:g.41648096G>C, NC_000008.11:g.41648096G>T, NC_000008.10:g.41505615G>C, NC_000008.10:g.41505615G>T, NM_001364841.2:c.522C>G, NM_001364841.2:c.522C>A, NM_001364841.1:c.522C>G, NM_001364841.1:c.522C>A, NP_001351770.1:p.Tyr174Ter, NP_001351770.1:p.Tyr174Ter

Select item 14893311336.

rs1489331133 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:41648834 (GRCh38)
8:41506353 (GRCh37)
Canonical SPDI:: NC_000008.11:41648833:G:A,NC_000008.11:41648833:G:T
Gene:: NKX6-3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.41648834G>A, NC_000008.11:g.41648834G>T, NC_000008.10:g.41506353G>A, NC_000008.10:g.41506353G>T

Select item 14891845527.

rs1489184552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:41649402 (GRCh38)
8:41506921 (GRCh37)
Canonical SPDI:: NC_000008.11:41649401:G:T
Gene:: NKX6-3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000008.11:g.41649402G>T, NC_000008.10:g.41506921G>T

Select item 14882058988.

rs1488205898 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 8:41645942 (GRCh38)
8:41503461 (GRCh37)
Canonical SPDI:: NC_000008.11:41645939:TTTT:TT
Gene:: NKX6-3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0.000142/2 (ALFA)
-=0.000034/9 (TOPMED)
-=0.000043/6 (GnomAD)
HGVS:: NC_000008.11:g.41645942_41645943del, NC_000008.10:g.41503461_41503462del, NM_152568.3:c.*508_*509del, NM_001364841.2:c.*508_*509del, NM_001364841.1:c.*508_*509del

Select item 14874314949.

rs1487431494 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:41650419 (GRCh38)
8:41507938 (GRCh37)
Canonical SPDI:: NC_000008.11:41650418:G:A
Gene:: NKX6-3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.41650419G>A, NC_000008.10:g.41507938G>A, NM_001364841.2:c.74C>T, NM_001364841.1:c.74C>T, NP_001351770.1:p.Pro25Leu

Select item 148727454810.

rs1487274548 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:41651648 (GRCh38)
8:41509167 (GRCh37)
Canonical SPDI:: NC_000008.11:41651647:C:T
Gene:: NKX6-3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.41651648C>T, NC_000008.10:g.41509167C>T, NG_012820.2:g.250115G>A

Select item 148695650511.

rs1486956505 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:41650218 (GRCh38)
8:41507737 (GRCh37)
Canonical SPDI:: NC_000008.11:41650217:G:C
Gene:: NKX6-3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000008.11:g.41650218G>C, NC_000008.10:g.41507737G>C, NM_001364841.2:c.275C>G, NM_001364841.1:c.275C>G, NP_001351770.1:p.Pro92Arg

Select item 148691473412.

rs1486914734 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:41649689 (GRCh38)
8:41507208 (GRCh37)
Canonical SPDI:: NC_000008.11:41649688:T:C
Gene:: NKX6-3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.41649689T>C, NC_000008.10:g.41507208T>C

Select item 148618245913.

rs1486182459 has merged into rs1212825520 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGCCCCC>-,CGCCCCCCGCCCCC [Show Flanks]
Chromosome:: 8:41646878 (GRCh38)
8:41504397 (GRCh37)
Canonical SPDI:: NC_000008.11:41646869:CCGCCCCCCGCCCCC:CCGCCCCC,NC_000008.11:41646869:CCGCCCCCCGCCCCC:CCGCCCCCCGCCCCCCGCCCCC
Gene:: NKX6-3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CCGCCCCCCGCCCCCCGCCCCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.41646871CGCCCCC[1], NC_000008.11:g.41646871CGCCCCC[3], NC_000008.10:g.41504390CGCCCCC[1], NC_000008.10:g.41504390CGCCCCC[3]

Select item 148615224114.

rs1486152241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:41647585 (GRCh38)
8:41505104 (GRCh37)
Canonical SPDI:: NC_000008.11:41647584:C:T
Gene:: NKX6-3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_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_000008.11:g.41647585C>T, NC_000008.10:g.41505104C>T

Select item 148575238715.

rs1485752387 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:41649518 (GRCh38)
8:41507037 (GRCh37)
Canonical SPDI:: NC_000008.11:41649517:C:T
Gene:: NKX6-3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.41649518C>T, NC_000008.10:g.41507037C>T

Select item 148572277216.

rs1485722772 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:41650248 (GRCh38)
8:41507767 (GRCh37)
Canonical SPDI:: NC_000008.11:41650247:C:A
Gene:: NKX6-3 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.41650248C>A, NC_000008.10:g.41507767C>A, NM_001364841.2:c.245G>T, NM_001364841.1:c.245G>T, NP_001351770.1:p.Gly82Val

Select item 148557458517.

rs1485574585 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:41652107 (GRCh38)
8:41509626 (GRCh37)
Canonical SPDI:: NC_000008.11:41652106:G:A
Gene:: NKX6-3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00003/8 (TOPMED)
HGVS:: NC_000008.11:g.41652107G>A, NC_000008.10:g.41509626G>A, NG_012820.2:g.249656C>T

Select item 148549938018.

rs1485499380 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:41646913 (GRCh38)
8:41504432 (GRCh37)
Canonical SPDI:: NC_000008.11:41646912:T:C,NC_000008.11:41646912:T:G
Gene:: NKX6-3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00034/4 (ALFA)
G=0.00005/1 (TOMMO)
C=0.04236/107 (KOREAN)
HGVS:: NC_000008.11:g.41646913T>C, NC_000008.11:g.41646913T>G, NC_000008.10:g.41504432T>C, NC_000008.10:g.41504432T>G

Select item 148460971019.

rs1484609710 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:41646084 (GRCh38)
8:41503603 (GRCh37)
Canonical SPDI:: NC_000008.11:41646083:C:T
Gene:: NKX6-3 (Varview)
Functional Consequence:: 3_prime_UTR_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_000008.11:g.41646084C>T, NC_000008.10:g.41503603C>T, NM_152568.3:c.*365G>A, NM_001364841.2:c.*365G>A, NM_001364841.1:c.*365G>A

Select item 148449831520.

rs1484498315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:41649818 (GRCh38)
8:41507337 (GRCh37)
Canonical SPDI:: NC_000008.11:41649817:G:A
Gene:: NKX6-3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.41649818G>A, NC_000008.10:g.41507337G>A

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