Links from Gene
Items: 1 to 20 of 1000
1.
rs1490828398 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 16:77191291
(GRCh38)
16:77225188
(GRCh37)
- Canonical SPDI:
- NC_000016.10:77191290:T:G
- Gene:
- MON1B (Varview), LOC124903725 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD_exomes)
- HGVS:
2.
rs1490631939 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 16:77193225
(GRCh38)
16:77227122
(GRCh37)
- Canonical SPDI:
- NC_000016.10:77193224:T:C,NC_000016.10:77193224:T:G
- Gene:
- MON1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
3.
rs1490421072 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:77192083
(GRCh38)
16:77225980
(GRCh37)
- Canonical SPDI:
- NC_000016.10:77192082:A:G
- Gene:
- MON1B (Varview), LOC124903725 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
4.
rs1490384807 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:77191369
(GRCh38)
16:77225266
(GRCh37)
- Canonical SPDI:
- NC_000016.10:77191368:C:G
- Gene:
- MON1B (Varview), LOC124903725 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
6.
rs1489374114 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 16:77193285
(GRCh38)
16:77227182
(GRCh37)
- Canonical SPDI:
- NC_000016.10:77193284:G:T
- Gene:
- MON1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
7.
rs1489306475 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:77199869
(GRCh38)
16:77233766
(GRCh37)
- Canonical SPDI:
- NC_000016.10:77199868:A:G
- Gene:
- MON1B (Varview), SYCE1L (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
8.
rs1489256989 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 16:77189132
(GRCh38)
16:77223029
(GRCh37)
- Canonical SPDI:
- NC_000016.10:77189131:C:G,NC_000016.10:77189131:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
- HGVS:
9.
rs1489096411 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:77190873
(GRCh38)
16:77224770
(GRCh37)
- Canonical SPDI:
- NC_000016.10:77190872:C:T
- Gene:
- MON1B (Varview), LOC124903725 (Varview)
- Functional Consequence:
- 2KB_upstream_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:
11.
rs1488653722 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:77193034
(GRCh38)
16:77226931
(GRCh37)
- Canonical SPDI:
- NC_000016.10:77193033:G:C
- Gene:
- MON1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
12.
rs1488403953 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:77191666
(GRCh38)
16:77225563
(GRCh37)
- Canonical SPDI:
- NC_000016.10:77191665:A:G
- Gene:
- MON1B (Varview), LOC124903725 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.0005/1
(Korea1K)
- HGVS:
14.
rs1487740079 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:77192884
(GRCh38)
16:77226781
(GRCh37)
- Canonical SPDI:
- NC_000016.10:77192883:C:T
- Gene:
- MON1B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1487374990 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 16:77191697
(GRCh38)
16:77225594
(GRCh37)
- Canonical SPDI:
- NC_000016.10:77191696:A:G,NC_000016.10:77191696:A:T
- Gene:
- MON1B (Varview), LOC124903725 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000008/1
(GnomAD)
- HGVS:
16.
rs1487270929 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:77198143
(GRCh38)
16:77232040
(GRCh37)
- Canonical SPDI:
- NC_000016.10:77198142:C:G
- Gene:
- MON1B (Varview), SYCE1L (Varview)
- Functional Consequence:
- coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000016.10:g.77198143C>G, NC_000016.9:g.77232040C>G, NM_014940.4:c.1479C>G, NM_014940.3:c.1479C>G, NM_014940.2:c.1479C>G, NM_001286639.2:c.1152C>G, NM_001286639.1:c.1152C>G, NM_001286640.2:c.1041C>G, NM_001286640.1:c.1041C>G, NP_055755.1:p.Ser493Arg, NP_001273568.1:p.Ser384Arg, NP_001273569.1:p.Ser347Arg
17.
rs1487229250 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 16:77188967
(GRCh38)
16:77222864
(GRCh37)
- Canonical SPDI:
- NC_000016.10:77188966:T:C,NC_000016.10:77188966:T:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1487032780 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:77199545
(GRCh38)
16:77233442
(GRCh37)
- Canonical SPDI:
- NC_000016.10:77199544:C:T
- Gene:
- MON1B (Varview), SYCE1L (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000023/6
(TOPMED)
T=0.000026/4
(GnomAD_exomes)
- HGVS:
20.
rs1486331998 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 16:77192397
(GRCh38)
16:77226294
(GRCh37)
- Canonical SPDI:
- NC_000016.10:77192396:A:C
- Gene:
- MON1B (Varview), LOC124903725 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS: