Links from Gene
Items: 1 to 20 of 4757
1.
rs1491546404 has merged into rs71369591 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACACACACACACACACACACAC>-,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 9:99367984
(GRCh38)
9:102130266
(GRCh37)
- Canonical SPDI:
- NC_000009.12:99367961:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000009.12:99367961:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000009.12:99367961:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000009.12:99367961:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000009.12:99367961:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000009.12:99367961:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000009.12:99367961:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000009.12:99367961:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000009.12:99367961:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:99367961:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:99367961:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:99367961:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:99367961:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:99367961:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:99367961:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:99367961:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:99367961:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:99367961:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000009.12:99367961:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- NAMA (Varview), LOC124902232 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACACAC=0./0
(
ALFA)
- HGVS:
NC_000009.12:g.99367962AC[11], NC_000009.12:g.99367962AC[13], NC_000009.12:g.99367962AC[14], NC_000009.12:g.99367962AC[15], NC_000009.12:g.99367962AC[16], NC_000009.12:g.99367962AC[17], NC_000009.12:g.99367962AC[18], NC_000009.12:g.99367962AC[19], NC_000009.12:g.99367962AC[20], NC_000009.12:g.99367962AC[21], NC_000009.12:g.99367962AC[22], NC_000009.12:g.99367962AC[23], NC_000009.12:g.99367962AC[24], NC_000009.12:g.99367962AC[25], NC_000009.12:g.99367962AC[26], NC_000009.12:g.99367962AC[28], NC_000009.12:g.99367962AC[29], NC_000009.12:g.99367962AC[30], NC_000009.12:g.99367962AC[31], NC_000009.11:g.102130244AC[11], NC_000009.11:g.102130244AC[13], NC_000009.11:g.102130244AC[14], NC_000009.11:g.102130244AC[15], NC_000009.11:g.102130244AC[16], NC_000009.11:g.102130244AC[17], NC_000009.11:g.102130244AC[18], NC_000009.11:g.102130244AC[19], NC_000009.11:g.102130244AC[20], NC_000009.11:g.102130244AC[21], NC_000009.11:g.102130244AC[22], NC_000009.11:g.102130244AC[23], NC_000009.11:g.102130244AC[24], NC_000009.11:g.102130244AC[25], NC_000009.11:g.102130244AC[26], NC_000009.11:g.102130244AC[28], NC_000009.11:g.102130244AC[29], NC_000009.11:g.102130244AC[30], NC_000009.11:g.102130244AC[31]
2.
rs1491476899 has merged into rs901261047 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA
[Show Flanks]
- Chromosome:
- 9:99357411
(GRCh38)
9:102119693
(GRCh37)
- Canonical SPDI:
- NC_000009.12:99357403:ATATATATA:ATATATA,NC_000009.12:99357403:ATATATATA:ATATATATATA
- Gene:
- NAMA (Varview), LOC124902232 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATA=0./0
(
ALFA)
-=0.00007/1
(TOMMO)
-=0.00017/4
(GnomAD)
-=0.00056/1
(Korea1K)
- HGVS:
4.
rs1490988092 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:99356286
(GRCh38)
9:102118568
(GRCh37)
- Canonical SPDI:
- NC_000009.12:99356285:T:A
- Gene:
- NAMA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490895436 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:99357274
(GRCh38)
9:102119556
(GRCh37)
- Canonical SPDI:
- NC_000009.12:99357273:C:A
- Gene:
- NAMA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
6.
rs1490893465 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 9:99371877
(GRCh38)
9:102134159
(GRCh37)
- Canonical SPDI:
- NC_000009.12:99371876:C:G
- Gene:
- NAMA (Varview), LOC124902232 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
7.
rs1490796159 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:99373176
(GRCh38)
9:102135458
(GRCh37)
- Canonical SPDI:
- NC_000009.12:99373175:G:T
- Gene:
- NAMA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
9.
rs1490676470 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGCC
[Show Flanks]
- Chromosome:
- 9:99365329
(GRCh38)
9:102127612
(GRCh37)
- Canonical SPDI:
- NC_000009.12:99365329:AGCCAGCC:AGCCAGCCAGCC
- Gene:
- NAMA (Varview), LOC124902232 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AGCCAGCCAGCC=0./0
(
ALFA)
AGCC=0.000004/1
(TOPMED)
- HGVS:
10.
rs1490619119 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:99364105
(GRCh38)
9:102126387
(GRCh37)
- Canonical SPDI:
- NC_000009.12:99364104:C:T
- Gene:
- NAMA (Varview), LOC124902232 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000071/1
(TOMMO)
- HGVS:
11.
rs1490403941 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:99357582
(GRCh38)
9:102119864
(GRCh37)
- Canonical SPDI:
- NC_000009.12:99357581:G:A
- Gene:
- NAMA (Varview), LOC124902232 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
12.
rs1490374366 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:99358324
(GRCh38)
9:102120606
(GRCh37)
- Canonical SPDI:
- NC_000009.12:99358323:G:A
- Gene:
- NAMA (Varview), LOC124902232 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000023/6
(TOPMED)
A=0.000043/6
(GnomAD)
- HGVS:
14.
rs1490261245 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:99361557
(GRCh38)
9:102123839
(GRCh37)
- Canonical SPDI:
- NC_000009.12:99361556:C:T
- Gene:
- NAMA (Varview), LOC124902232 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.000034/9
(TOPMED)
T=0.00005/7
(GnomAD)
- HGVS:
16.
rs1490071267 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 9:99356786
(GRCh38)
9:102119068
(GRCh37)
- Canonical SPDI:
- NC_000009.12:99356785:G:C,NC_000009.12:99356785:G:T
- Gene:
- NAMA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
17.
rs1490039458 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:99355797
(GRCh38)
9:102118079
(GRCh37)
- Canonical SPDI:
- NC_000009.12:99355796:G:A
- Gene:
- NAMA (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1489605836 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:99358268
(GRCh38)
9:102120550
(GRCh37)
- Canonical SPDI:
- NC_000009.12:99358267:C:T
- Gene:
- NAMA (Varview), LOC124902232 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
19.
rs1489425765 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGTGGGTCATTT>-
[Show Flanks]
- Chromosome:
- 9:99374356
(GRCh38)
9:102136638
(GRCh37)
- Canonical SPDI:
- NC_000009.12:99374354:TGGTGGGTCATTT:T
- Gene:
- NAMA (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000035/1
(TOMMO)
-=0.000546/1
(Korea1K)
- HGVS:
20.
rs1489414806 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:99361834
(GRCh38)
9:102124116
(GRCh37)
- Canonical SPDI:
- NC_000009.12:99361833:G:A
- Gene:
- NAMA (Varview), LOC124902232 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: