Links from Gene
Items: 1 to 20 of 1000
1.
rs1491262296 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 7:150802106
(GRCh38)
7:150499194
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150802104:TTT:T
- Gene:
- TMEM176B (Varview), TMEM176A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000106/3
(TOMMO)
- HGVS:
2.
rs1490973081 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:150804358
(GRCh38)
7:150501446
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150804357:C:T
- Gene:
- TMEM176A (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
3.
rs1490608569 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:150804387
(GRCh38)
7:150501475
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150804386:T:C
- Gene:
- TMEM176A (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
4.
rs1490353189 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 7:150799375
(GRCh38)
7:150496463
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150799374:A:C
- Gene:
- TMEM176B (Varview), TMEM176A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0./0
(KOREAN)
C=0.000021/3
(GnomAD)
C=0.00006/16
(TOPMED)
C=0.001092/2
(Korea1K)
- HGVS:
5.
rs1490225234 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:150801654
(GRCh38)
7:150498742
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150801653:C:T
- Gene:
- TMEM176B (Varview), TMEM176A (Varview)
- Functional Consequence:
- missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
NC_000007.14:g.150801654C>T, NC_000007.13:g.150498742C>T, XM_011516376.4:c.155C>T, XM_011516376.3:c.155C>T, XM_011516376.2:c.155C>T, XM_011516376.1:c.155C>T, XM_011516378.3:c.155C>T, XM_011516378.2:c.155C>T, XM_011516378.1:c.155C>T, NM_018487.3:c.104C>T, NM_018487.2:c.104C>T, XM_024446824.2:c.104C>T, XM_024446824.1:c.104C>T, XM_047420570.1:c.155C>T, XP_011514678.1:p.Thr52Ile, XP_011514680.1:p.Thr52Ile, NP_060957.2:p.Thr35Ile, XP_024302592.1:p.Thr35Ile, XP_047276526.1:p.Thr52Ile
6.
rs1489788166 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 7:150799352
(GRCh38)
7:150496440
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150799351:C:G,NC_000007.14:150799351:C:T
- Gene:
- TMEM176B (Varview), TMEM176A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
T=0.000546/1
(Korea1K)
- HGVS:
7.
rs1488753453 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 7:150800875
(GRCh38)
7:150497963
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150800874:C:A,NC_000007.14:150800874:C:G
- Gene:
- TMEM176B (Varview), TMEM176A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.00016/1
(1000Genomes)
- HGVS:
NC_000007.14:g.150800875C>A, NC_000007.14:g.150800875C>G, NC_000007.13:g.150497963C>A, NC_000007.13:g.150497963C>G, XM_011516376.4:c.-58C>A, XM_011516376.4:c.-58C>G, XM_011516376.3:c.-58C>A, XM_011516376.3:c.-58C>G, XM_011516376.2:c.-58C>A, XM_011516376.2:c.-58C>G, XM_011516376.1:c.-58C>A, XM_011516376.1:c.-58C>G, XM_011516378.3:c.-58C>A, XM_011516378.3:c.-58C>G, XM_011516378.2:c.-58C>A, XM_011516378.2:c.-58C>G, XM_011516378.1:c.-58C>A, XM_011516378.1:c.-58C>G, XM_047420570.1:c.-58C>A, XM_047420570.1:c.-58C>G
8.
rs1488487004 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:150802624
(GRCh38)
7:150499712
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150802623:T:C
- Gene:
- TMEM176B (Varview), TMEM176A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
10.
rs1486873212 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 7:150804858
(GRCh38)
7:150501946
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150804857:G:A,NC_000007.14:150804857:G:C
- Gene:
- TMEM176A (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000007.14:g.150804858G>A, NC_000007.14:g.150804858G>C, NC_000007.13:g.150501946G>A, NC_000007.13:g.150501946G>C, XM_011516376.4:c.749G>A, XM_011516376.4:c.749G>C, XM_011516376.3:c.749G>A, XM_011516376.3:c.749G>C, XM_011516376.2:c.749G>A, XM_011516376.2:c.749G>C, XM_011516376.1:c.749G>A, XM_011516376.1:c.749G>C, XM_011516378.3:c.638G>A, XM_011516378.3:c.638G>C, XM_011516378.2:c.638G>A, XM_011516378.2:c.638G>C, XM_011516378.1:c.638G>A, XM_011516378.1:c.638G>C, NM_018487.3:c.698G>A, NM_018487.3:c.698G>C, NM_018487.2:c.698G>A, NM_018487.2:c.698G>C, XM_024446824.2:c.587G>A, XM_024446824.2:c.587G>C, XM_024446824.1:c.587G>A, XM_024446824.1:c.587G>C, XP_011514678.1:p.Ser250Asn, XP_011514678.1:p.Ser250Thr, XP_011514680.1:p.Ser213Asn, XP_011514680.1:p.Ser213Thr, NP_060957.2:p.Ser233Asn, NP_060957.2:p.Ser233Thr, XP_024302592.1:p.Ser196Asn, XP_024302592.1:p.Ser196Thr
11.
rs1486852155 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:150800993
(GRCh38)
7:150498081
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150800992:C:T
- Gene:
- TMEM176B (Varview), TMEM176A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,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:
12.
rs1486796716 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTC>-
[Show Flanks]
- Chromosome:
- 7:150799436
(GRCh38)
7:150496524
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150799431:CTTCTTC:CTTC
- Gene:
- TMEM176B (Varview), TMEM176A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CTTC=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
13.
rs1486618728 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 7:150805278
(GRCh38)
7:150502366
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150805277:G:A,NC_000007.14:150805277:G:T
- Gene:
- TMEM176A (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
14.
rs1486467333 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 7:150800727
(GRCh38)
7:150497815
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150800726:CCCCC:CCCC
- Gene:
- TMEM176B (Varview), TMEM176A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CCCC=0.00007/1
(
ALFA)
-=0./0
(GnomAD)
- HGVS:
16.
rs1485218779 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:150801816
(GRCh38)
7:150498904
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150801815:A:G
- Gene:
- TMEM176B (Varview), TMEM176A (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
17.
rs1485097615 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:150799499
(GRCh38)
7:150496587
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150799498:T:C
- Gene:
- TMEM176B (Varview), TMEM176A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,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:
18.
rs1484892640 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTAGCGGTT>-
[Show Flanks]
- Chromosome:
- 7:150802148
(GRCh38)
7:150499236
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150802143:GGTTTTAGCGGTT:GGTT
- Gene:
- TMEM176B (Varview), TMEM176A (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GGTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
19.
rs1484660656 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:150798553
(GRCh38)
7:150495641
(GRCh37)
- Canonical SPDI:
- NC_000007.14:150798552:G:T
- Gene:
- TMEM176B (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)
- HGVS: