Links from Gene
Items: 1 to 20 of 511
1.
rs1487964043 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:135664535
(GRCh38)
2:136422105
(GRCh37)
- Canonical SPDI:
- NC_000002.12:135664534:G:A
- Gene:
- R3HDM1 (Varview), MIR128-1 (Varview), LOC124907893 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_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:
2.
rs1486991376 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:135664016
(GRCh38)
2:136421586
(GRCh37)
- Canonical SPDI:
- NC_000002.12:135664015:A:G
- Gene:
- R3HDM1 (Varview), MIR128-1 (Varview), LOC124907893 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
3.
rs1486328385 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:135665094
(GRCh38)
2:136422664
(GRCh37)
- Canonical SPDI:
- NC_000002.12:135665093:A:G
- Gene:
- R3HDM1 (Varview), MIR128-1 (Varview), LOC124907893 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
G=0.000602/10
(TOMMO)
G=0.001027/3
(KOREAN)
G=0.003275/6
(Korea1K)
- HGVS:
4.
rs1485273545 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:135664294
(GRCh38)
2:136421864
(GRCh37)
- Canonical SPDI:
- NC_000002.12:135664293:C:G
- Gene:
- R3HDM1 (Varview), MIR128-1 (Varview), LOC124907893 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1484942299 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 2:135665902
(GRCh38)
2:136423472
(GRCh37)
- Canonical SPDI:
- NC_000002.12:135665901:C:G,NC_000002.12:135665901:C:T
- Gene:
- R3HDM1 (Varview), MIR128-1 (Varview), LOC124907893 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
6.
rs1484872592 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:135665289
(GRCh38)
2:136422859
(GRCh37)
- Canonical SPDI:
- NC_000002.12:135665288:A:T
- Gene:
- R3HDM1 (Varview), MIR128-1 (Varview), LOC124907893 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
7.
rs1484695435 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCTC>-,TC
[Show Flanks]
- Chromosome:
- 2:135665788
(GRCh38)
2:136423358
(GRCh37)
- Canonical SPDI:
- NC_000002.12:135665785:TCTCTC:TC,NC_000002.12:135665785:TCTCTC:TCTC
- Gene:
- R3HDM1 (Varview), MIR128-1 (Varview), LOC124907893 (Varview)
- Functional Consequence:
- downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
8.
rs1484545550 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:135665425
(GRCh38)
2:136422995
(GRCh37)
- Canonical SPDI:
- NC_000002.12:135665424:T:C
- Gene:
- R3HDM1 (Varview), MIR128-1 (Varview), LOC124907893 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
9.
rs1483095831 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:135663893
(GRCh38)
2:136421463
(GRCh37)
- Canonical SPDI:
- NC_000002.12:135663892:G:A
- Gene:
- R3HDM1 (Varview), MIR128-1 (Varview), LOC124907893 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000106/2
(TOMMO)
- HGVS:
10.
rs1482353578 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 2:135664419
(GRCh38)
2:136421989
(GRCh37)
- Canonical SPDI:
- NC_000002.12:135664418:A:G,NC_000002.12:135664418:A:T
- Gene:
- R3HDM1 (Varview), MIR128-1 (Varview), LOC124907893 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
11.
rs1481687663 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:135665663
(GRCh38)
2:136423233
(GRCh37)
- Canonical SPDI:
- NC_000002.12:135665662:T:C
- Gene:
- R3HDM1 (Varview), MIR128-1 (Varview), LOC124907893 (Varview)
- Functional Consequence:
- downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
12.
rs1481374887 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:135664632
(GRCh38)
2:136422202
(GRCh37)
- Canonical SPDI:
- NC_000002.12:135664631:A:G
- Gene:
- R3HDM1 (Varview), MIR128-1 (Varview), LOC124907893 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1481261048 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:135663585
(GRCh38)
2:136421155
(GRCh37)
- Canonical SPDI:
- NC_000002.12:135663584:A:C
- Gene:
- R3HDM1 (Varview), MIR128-1 (Varview), LOC124907893 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000034/9
(TOPMED)
C=0.00005/7
(GnomAD)
- HGVS:
14.
rs1477600439 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:135663453
(GRCh38)
2:136421023
(GRCh37)
- Canonical SPDI:
- NC_000002.12:135663452:C:T
- Gene:
- R3HDM1 (Varview), MIR128-1 (Varview), LOC124907893 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00084/10
(
ALFA)
C=0.5/1
(SGDP_PRJ)
- HGVS:
15.
rs1475748530 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:135664797
(GRCh38)
2:136422367
(GRCh37)
- Canonical SPDI:
- NC_000002.12:135664796:G:A
- Gene:
- R3HDM1 (Varview), MIR128-1 (Varview), LOC124907893 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000026/7
(TOPMED)
- HGVS:
16.
rs1475366694 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:135665251
(GRCh38)
2:136422821
(GRCh37)
- Canonical SPDI:
- NC_000002.12:135665250:T:C
- Gene:
- R3HDM1 (Varview), MIR128-1 (Varview), LOC124907893 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_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:
17.
rs1474532484 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:135665629
(GRCh38)
2:136423199
(GRCh37)
- Canonical SPDI:
- NC_000002.12:135665628:T:C
- Gene:
- R3HDM1 (Varview), MIR128-1 (Varview), LOC124907893 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000036/5
(GnomAD)
- HGVS:
18.
rs1471077807 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:135664500
(GRCh38)
2:136422070
(GRCh37)
- Canonical SPDI:
- NC_000002.12:135664499:T:G
- Gene:
- R3HDM1 (Varview), MIR128-1 (Varview), LOC124907893 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1470155560 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:135664801
(GRCh38)
2:136422371
(GRCh37)
- Canonical SPDI:
- NC_000002.12:135664800:A:G
- Gene:
- R3HDM1 (Varview), MIR128-1 (Varview), LOC124907893 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000023/6
(TOPMED)
- HGVS:
20.
rs1468793798 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:135664273
(GRCh38)
2:136421843
(GRCh37)
- Canonical SPDI:
- NC_000002.12:135664272:A:G
- Gene:
- R3HDM1 (Varview), MIR128-1 (Varview), LOC124907893 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS: