Links from Gene
Items: 1 to 20 of 1237
2.
rs1488646699 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 11:82732060
(GRCh38)
11:82443103
(GRCh37)
- Canonical SPDI:
- NC_000011.10:82732060:T:TT
- Gene:
- FAM181B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.001734/29
(TOMMO)
- HGVS:
4.
rs1488139874 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:82735144
(GRCh38)
11:82446186
(GRCh37)
- Canonical SPDI:
- NC_000011.10:82735143:C:A
- Gene:
- FAM181B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1487294840 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:82732119
(GRCh38)
11:82443161
(GRCh37)
- Canonical SPDI:
- NC_000011.10:82732118:G:A
- Gene:
- FAM181B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
7.
rs1487209916 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:82734815
(GRCh38)
11:82445857
(GRCh37)
- Canonical SPDI:
- NC_000011.10:82734814:T:C
- Gene:
- FAM181B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
8.
rs1487164412 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:82734000
(GRCh38)
11:82445042
(GRCh37)
- Canonical SPDI:
- NC_000011.10:82733999:G:A
- Gene:
- FAM181B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
10.
rs1485421430 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:82731952
(GRCh38)
11:82442994
(GRCh37)
- Canonical SPDI:
- NC_000011.10:82731951:G:A
- Gene:
- FAM181B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1484787175 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C,G
[Show Flanks]
- Chromosome:
- 11:82732833
(GRCh38)
11:82443875
(GRCh37)
- Canonical SPDI:
- NC_000011.10:82732832:T:A,NC_000011.10:82732832:T:C,NC_000011.10:82732832:T:G
- Gene:
- FAM181B (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/1
(GnomAD_exomes)
A=0.000022/3
(GnomAD)
A=0.000106/28
(TOPMED)
C=0.000531/15
(TOMMO)
G=0.000559/1
(Korea1K)
- HGVS:
NC_000011.10:g.82732833T>A, NC_000011.10:g.82732833T>C, NC_000011.10:g.82732833T>G, NC_000011.9:g.82443875T>A, NC_000011.9:g.82443875T>C, NC_000011.9:g.82443875T>G, NM_175885.4:c.897A>T, NM_175885.4:c.897A>G, NM_175885.4:c.897A>C, NM_175885.3:c.897A>T, NM_175885.3:c.897A>G, NM_175885.3:c.897A>C
12.
rs1484077281 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:82734259
(GRCh38)
11:82445301
(GRCh37)
- Canonical SPDI:
- NC_000011.10:82734258:T:C
- Gene:
- FAM181B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
13.
rs1482552322 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:82734979
(GRCh38)
11:82446021
(GRCh37)
- Canonical SPDI:
- NC_000011.10:82734978:T:C
- Gene:
- FAM181B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
C=0.000035/1
(TOMMO)
- HGVS:
14.
rs1479995691 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:82732143
(GRCh38)
11:82443185
(GRCh37)
- Canonical SPDI:
- NC_000011.10:82732142:C:A
- Gene:
- FAM181B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1478656943 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:82734231
(GRCh38)
11:82445273
(GRCh37)
- Canonical SPDI:
- NC_000011.10:82734230:A:G
- Gene:
- FAM181B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
16.
rs1478608828 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:82735442
(GRCh38)
11:82446484
(GRCh37)
- Canonical SPDI:
- NC_000011.10:82735441:G:C
- Gene:
- FAM181B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1478228089 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:82732213
(GRCh38)
11:82443255
(GRCh37)
- Canonical SPDI:
- NC_000011.10:82732212:A:G
- Gene:
- FAM181B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000156/1
(1000Genomes)
- HGVS:
20.
rs1476225271 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:82735173
(GRCh38)
11:82446215
(GRCh37)
- Canonical SPDI:
- NC_000011.10:82735172:C:T
- Gene:
- FAM181B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS: