Links from Gene
Items: 1 to 20 of 2958
3.
rs1490784393 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:66609880
(GRCh38)
16:66643783
(GRCh37)
- Canonical SPDI:
- NC_000016.10:66609879:C:T
- Gene:
- CMTM3 (Varview), CMTM4 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_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=0.000014/2
(GnomAD)
- HGVS:
4.
rs1490768570 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:66610964
(GRCh38)
16:66644867
(GRCh37)
- Canonical SPDI:
- NC_000016.10:66610963:G:A
- Gene:
- CMTM3 (Varview), CMTM4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
5.
rs1490603811 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:66610479
(GRCh38)
16:66644382
(GRCh37)
- Canonical SPDI:
- NC_000016.10:66610478:C:T
- Gene:
- CMTM3 (Varview), CMTM4 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
T=0.000034/9
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
6.
rs1490097010 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:66602124
(GRCh38)
16:66636027
(GRCh37)
- Canonical SPDI:
- NC_000016.10:66602123:C:T
- Gene:
- CMTM3 (Varview), CMTM4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.00003/8
(TOPMED)
- HGVS:
7.
rs1489802186 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 16:66608892
(GRCh38)
16:66642795
(GRCh37)
- Canonical SPDI:
- NC_000016.10:66608891:G:T
- Gene:
- CMTM3 (Varview), CMTM4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1489319228 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:66603501
(GRCh38)
16:66637404
(GRCh37)
- Canonical SPDI:
- NC_000016.10:66603500:C:G
- Gene:
- CMTM3 (Varview), CMTM4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1488868220 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:66607195
(GRCh38)
16:66641098
(GRCh37)
- Canonical SPDI:
- NC_000016.10:66607194:C:T
- Gene:
- CMTM3 (Varview), CMTM4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
11.
rs1488123349 has merged into rs944454339 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGA>-,GA,GAGAGA,GAGAGAGAGA
[Show Flanks]
- Chromosome:
- 16:66604060
(GRCh38)
16:66637963
(GRCh37)
- Canonical SPDI:
- NC_000016.10:66604051:GAGAGAGAGAGA:GAGAGAGA,NC_000016.10:66604051:GAGAGAGAGAGA:GAGAGAGAGA,NC_000016.10:66604051:GAGAGAGAGAGA:GAGAGAGAGAGAGA,NC_000016.10:66604051:GAGAGAGAGAGA:GAGAGAGAGAGAGAGAGA
- Gene:
- CMTM3 (Varview), CMTM4 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGAGAGA=0.000055/1
(
ALFA)
-=0.000057/15
(TOPMED)
GAGAGA=0.000179/3
(TOMMO)
- HGVS:
NC_000016.10:g.66604052GA[4], NC_000016.10:g.66604052GA[5], NC_000016.10:g.66604052GA[7], NC_000016.10:g.66604052GA[9], NC_000016.9:g.66637955GA[4], NC_000016.9:g.66637955GA[5], NC_000016.9:g.66637955GA[7], NC_000016.9:g.66637955GA[9], NM_144601.5:c.-579GA[4], NM_144601.5:c.-579GA[5], NM_144601.5:c.-579GA[7], NM_144601.5:c.-579GA[9], NM_144601.4:c.-579GA[4], NM_144601.4:c.-579GA[5], NM_144601.4:c.-579GA[7], NM_144601.4:c.-579GA[9], NM_001363923.2:c.-506GA[4], NM_001363923.2:c.-506GA[5], NM_001363923.2:c.-506GA[7], NM_001363923.2:c.-506GA[9], NM_001363923.1:c.-506GA[4], NM_001363923.1:c.-506GA[5], NM_001363923.1:c.-506GA[7], NM_001363923.1:c.-506GA[9], NM_001363918.2:c.-473GA[4], NM_001363918.2:c.-473GA[5], NM_001363918.2:c.-473GA[7], NM_001363918.2:c.-473GA[9], NM_001363918.1:c.-473GA[4], NM_001363918.1:c.-473GA[5], NM_001363918.1:c.-473GA[7], NM_001363918.1:c.-473GA[9], NR_037613.1:n.21GA[4], NR_037613.1:n.21GA[5], NR_037613.1:n.21GA[7], NR_037613.1:n.21GA[9]
12.
rs1488111988 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 16:66608729
(GRCh38)
16:66642632
(GRCh37)
- Canonical SPDI:
- NC_000016.10:66608728:G:C,NC_000016.10:66608728:G:T
- Gene:
- CMTM3 (Varview), CMTM4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000036/5
(GnomAD)
- HGVS:
13.
rs1487974291 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 16:66604401
(GRCh38)
16:66638304
(GRCh37)
- Canonical SPDI:
- NC_000016.10:66604400:C:A
- Gene:
- CMTM3 (Varview), CMTM4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.0005/1
(Korea1K)
- HGVS:
NC_000016.10:g.66604401C>A, NC_000016.9:g.66638304C>A, NM_144601.5:c.-230C>A, NM_144601.4:c.-230C>A, NM_144601.3:c.-230C>A, NM_001363923.2:c.-157C>A, NM_001363923.1:c.-157C>A, NM_001363918.2:c.-124C>A, NM_001363918.1:c.-124C>A, NR_037613.1:n.370C>A, NM_001048251.1:c.-157C>A, NM_181554.1:c.-124C>A, NM_181555.1:c.-160C>A
14.
rs1487952724 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 16:66606887
(GRCh38)
16:66640790
(GRCh37)
- Canonical SPDI:
- NC_000016.10:66606886:G:T
- Gene:
- CMTM3 (Varview), CMTM4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
15.
rs1487628513 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:66606467
(GRCh38)
16:66640370
(GRCh37)
- Canonical SPDI:
- NC_000016.10:66606466:C:T
- Gene:
- CMTM3 (Varview), CMTM4 (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
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1487620082 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 16:66608508
(GRCh38)
16:66642411
(GRCh37)
- Canonical SPDI:
- NC_000016.10:66608507:T:C,NC_000016.10:66608507:T:G
- Gene:
- CMTM3 (Varview), CMTM4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1487554892 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATCT>-
[Show Flanks]
- Chromosome:
- 16:66607481
(GRCh38)
16:66641384
(GRCh37)
- Canonical SPDI:
- NC_000016.10:66607475:TATCTATCT:TATCT
- Gene:
- CMTM3 (Varview), CMTM4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATCT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
19.
rs1487524668 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:66607347
(GRCh38)
16:66641250
(GRCh37)
- Canonical SPDI:
- NC_000016.10:66607346:A:G
- Gene:
- CMTM3 (Varview), CMTM4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
20.
rs1487395012 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 16:66613144
(GRCh38)
16:66647047
(GRCh37)
- Canonical SPDI:
- NC_000016.10:66613143:T:C,NC_000016.10:66613143:T:G
- Gene:
- CMTM3 (Varview), CMTM4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
G=0.000007/1
(GnomAD_exomes)
- HGVS:
NC_000016.10:g.66613144T>C, NC_000016.10:g.66613144T>G, NC_000016.9:g.66647047T>C, NC_000016.9:g.66647047T>G, NM_144601.5:c.*507T>C, NM_144601.5:c.*507T>G, NM_144601.4:c.*507T>C, NM_144601.4:c.*507T>G, NM_144601.3:c.*507T>C, NM_144601.3:c.*507T>G, NM_181553.4:c.*507T>C, NM_181553.4:c.*507T>G, NM_181553.3:c.*507T>C, NM_181553.3:c.*507T>G, NM_181553.2:c.*507T>C, NM_181553.2:c.*507T>G, NM_001363923.2:c.*507T>C, NM_001363923.2:c.*507T>G, NM_001363923.1:c.*507T>C, NM_001363923.1:c.*507T>G, NM_001363918.2:c.*507T>C, NM_001363918.2:c.*507T>G, NM_001363918.1:c.*507T>C, NM_001363918.1:c.*507T>G, NR_037613.1:n.1582T>C, NR_037613.1:n.1582T>G, NM_001048251.1:c.*507T>C, NM_001048251.1:c.*507T>G, NM_181554.1:c.*507T>C, NM_181554.1:c.*507T>G, NR_037619.1:n.1255T>C, NR_037619.1:n.1255T>G, XM_047433598.1:c.*507T>C, XM_047433598.1:c.*507T>G, XM_047433594.1:c.*507T>C, XM_047433594.1:c.*507T>G, XM_047433597.1:c.*507T>C, XM_047433597.1:c.*507T>G, NM_181555.1:c.*507T>C, NM_181555.1:c.*507T>G