Links from Gene
Items: 1 to 20 of 1466
1.
rs1490414409 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 14:73714398
(GRCh38)
14:74181101
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73714397:G:T
- Gene:
- PNMA1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
2.
rs1489924731 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 14:73715162
(GRCh38)
14:74181865
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73715161:C:G,NC_000014.9:73715161:C:T
- Gene:
- PNMA1 (Varview), MIDEAS (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000036/5
(GnomAD)
- HGVS:
NC_000014.9:g.73715162C>G, NC_000014.9:g.73715162C>T, NC_000014.8:g.74181865C>G, NC_000014.8:g.74181865C>T, NM_194278.4:c.*4139G>C, NM_194278.4:c.*4139G>A, NM_194278.3:c.*4139G>C, NM_194278.3:c.*4139G>A, NM_001043318.3:c.*4139G>C, NM_001043318.3:c.*4139G>A, NM_001043318.2:c.*4139G>C, NM_001043318.2:c.*4139G>A, NM_001043318.1:c.*4139G>C, NM_001043318.1:c.*4139G>A, NM_001367710.1:c.*3681G>C, NM_001367710.1:c.*3681G>A, XM_047431914.1:c.*3681G>C, XM_047431914.1:c.*3681G>A, XM_005268206.1:c.*3681G>C, XM_005268206.1:c.*3681G>A, XM_047431913.1:c.*3681G>C, XM_047431913.1:c.*3681G>A, NM_001394972.1:c.*3681G>C, NM_001394972.1:c.*3681G>A
3.
rs1489068721 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:73716289
(GRCh38)
14:74182992
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73716288:G:A
- Gene:
- PNMA1 (Varview), MIDEAS (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
NC_000014.9:g.73716289G>A, NC_000014.8:g.74182992G>A, NM_194278.4:c.*3012C>T, NM_194278.3:c.*3012C>T, NM_001043318.3:c.*3012C>T, NM_001043318.2:c.*3012C>T, NM_001043318.1:c.*3012C>T, NM_001367710.1:c.*2554C>T, XM_047431914.1:c.*2554C>T, XM_005268206.1:c.*2554C>T, XM_047431913.1:c.*2554C>T, NM_001394972.1:c.*2554C>T, NM_018678.1:c.*32G>A
4.
rs1488157765 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:73715018
(GRCh38)
14:74181721
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73715017:C:G
- Gene:
- PNMA1 (Varview), MIDEAS (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000342/1
(KOREAN)
- HGVS:
5.
rs1487907742 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:73714724
(GRCh38)
14:74181427
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73714723:C:T
- Gene:
- PNMA1 (Varview), MIDEAS (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
6.
rs1487804031 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 14:73715581
(GRCh38)
14:74182284
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73715580:AAAA:AAA
- Gene:
- PNMA1 (Varview), MIDEAS (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0.000142/2
(
ALFA)
-=0.000076/20
(TOPMED)
-=0.000078/11
(GnomAD)
- HGVS:
NC_000014.9:g.73715584del, NC_000014.8:g.74182287del, NM_194278.4:c.*3720del, NM_194278.3:c.*3720del, NM_001043318.3:c.*3720del, NM_001043318.2:c.*3720del, NM_001043318.1:c.*3720del, NM_001367710.1:c.*3262del, XM_047431914.1:c.*3262del, XM_005268206.1:c.*3262del, XM_047431913.1:c.*3262del, NM_001394972.1:c.*3262del
7.
rs1487069203 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:73716060
(GRCh38)
14:74182763
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73716059:A:C
- Gene:
- PNMA1 (Varview), MIDEAS (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_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)
C=0.000684/2
(KOREAN)
- HGVS:
NC_000014.9:g.73716060A>C, NC_000014.8:g.74182763A>C, NM_194278.4:c.*3241T>G, NM_194278.3:c.*3241T>G, NM_001043318.3:c.*3241T>G, NM_001043318.2:c.*3241T>G, NM_001043318.1:c.*3241T>G, NM_001367710.1:c.*2783T>G, XM_047431914.1:c.*2783T>G, XM_005268206.1:c.*2783T>G, XM_047431913.1:c.*2783T>G, NM_001394972.1:c.*2783T>G, NM_018678.1:c.36A>C
8.
rs1486867479 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 14:73713807
(GRCh38)
14:74180510
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73713804:CACA:CA
- Gene:
- PNMA1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACA=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
9.
rs1486392846 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:73713447
(GRCh38)
14:74180150
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73713446:A:G
- Gene:
- PNMA1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
10.
rs1484912644 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:73714395
(GRCh38)
14:74181098
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73714394:A:G
- Gene:
- PNMA1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
11.
rs1484024051 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 14:73711285
(GRCh38)
14:74177988
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73711284:G:A,NC_000014.9:73711284:G:C
- Gene:
- PNMA1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
12.
rs1483795838 has merged into rs1363271305 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTCT>-,CT
[Show Flanks]
- Chromosome:
- 14:73715279
(GRCh38)
14:74181982
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73715277:TCTCT:T,NC_000014.9:73715277:TCTCT:TCT
- Gene:
- PNMA1 (Varview), MIDEAS (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCT=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
- HGVS:
NC_000014.9:g.73715279_73715282del, NC_000014.9:g.73715279CT[1], NC_000014.8:g.74181982_74181985del, NC_000014.8:g.74181982CT[1], NM_194278.4:c.*4020_*4023del, NM_194278.4:c.*4020GA[1], NM_194278.3:c.*4020_*4023del, NM_194278.3:c.*4020GA[1], NM_001043318.3:c.*4020_*4023del, NM_001043318.3:c.*4020GA[1], NM_001043318.2:c.*4020_*4023del, NM_001043318.2:c.*4020GA[1], NM_001043318.1:c.*4020_*4023del, NM_001043318.1:c.*4020GA[1], NM_001367710.1:c.*3562_*3565del, NM_001367710.1:c.*3562GA[1], XM_047431914.1:c.*3562_*3565del, XM_047431914.1:c.*3562GA[1], XM_005268206.1:c.*3562_*3565del, XM_005268206.1:c.*3562GA[1], XM_047431913.1:c.*3562_*3565del, XM_047431913.1:c.*3562GA[1], NM_001394972.1:c.*3562_*3565del, NM_001394972.1:c.*3562GA[1]
14.
rs1483125832 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:73711296
(GRCh38)
14:74177999
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73711295:C:T
- Gene:
- PNMA1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000023/6
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
15.
rs1482798699 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:73713165
(GRCh38)
14:74179868
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73713164:T:C
- Gene:
- PNMA1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000111/1
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
- HGVS:
16.
rs1482798322 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:73711703
(GRCh38)
14:74178406
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73711702:G:A
- Gene:
- PNMA1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1480966942 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:73715876
(GRCh38)
14:74182579
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73715875:T:C
- Gene:
- PNMA1 (Varview), MIDEAS (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_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_000014.9:g.73715876T>C, NC_000014.8:g.74182579T>C, NM_194278.4:c.*3425A>G, NM_194278.3:c.*3425A>G, NM_001043318.3:c.*3425A>G, NM_001043318.2:c.*3425A>G, NM_001043318.1:c.*3425A>G, NM_001367710.1:c.*2967A>G, XM_047431914.1:c.*2967A>G, XM_005268206.1:c.*2967A>G, XM_047431913.1:c.*2967A>G, NM_001394972.1:c.*2967A>G, NM_018678.1:c.-149T>C
19.
rs1480439623 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:73715681
(GRCh38)
14:74182384
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73715680:A:T
- Gene:
- PNMA1 (Varview), MIDEAS (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000014.9:g.73715681A>T, NC_000014.8:g.74182384A>T, NM_194278.4:c.*3620T>A, NM_194278.3:c.*3620T>A, NM_001043318.3:c.*3620T>A, NM_001043318.2:c.*3620T>A, NM_001043318.1:c.*3620T>A, NM_001367710.1:c.*3162T>A, XM_047431914.1:c.*3162T>A, XM_005268206.1:c.*3162T>A, XM_047431913.1:c.*3162T>A, NM_001394972.1:c.*3162T>A
20.
rs1479493917 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:73714972
(GRCh38)
14:74181675
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73714971:C:T
- Gene:
- PNMA1 (Varview), MIDEAS (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS: