Links from Gene
Items: 1 to 20 of 1000
1.
rs1491574023 has merged into rs373485742 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:60469939
(GRCh38)
14:60936657
(GRCh37)
- Canonical SPDI:
- NC_000014.9:60469929:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:60469929:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:60469929:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:60469929:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:60469929:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:60469929:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:60469929:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:60469929:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:60469929:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:60469929:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:60469929:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:60469929:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:60469929:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:60469929:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:60469929:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:60469929:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- C14orf39 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.60469939_60469948del, NC_000014.9:g.60469942_60469948del, NC_000014.9:g.60469945_60469948del, NC_000014.9:g.60469946_60469948del, NC_000014.9:g.60469947_60469948del, NC_000014.9:g.60469948del, NC_000014.9:g.60469948dup, NC_000014.9:g.60469947_60469948dup, NC_000014.9:g.60469946_60469948dup, NC_000014.9:g.60469945_60469948dup, NC_000014.9:g.60469944_60469948dup, NC_000014.9:g.60469943_60469948dup, NC_000014.9:g.60469942_60469948dup, NC_000014.9:g.60469936_60469948dup, NC_000014.9:g.60469948_60469949insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.60469948_60469949insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.60936657_60936666del, NC_000014.8:g.60936660_60936666del, NC_000014.8:g.60936663_60936666del, NC_000014.8:g.60936664_60936666del, NC_000014.8:g.60936665_60936666del, NC_000014.8:g.60936666del, NC_000014.8:g.60936666dup, NC_000014.8:g.60936665_60936666dup, NC_000014.8:g.60936664_60936666dup, NC_000014.8:g.60936663_60936666dup, NC_000014.8:g.60936662_60936666dup, NC_000014.8:g.60936661_60936666dup, NC_000014.8:g.60936660_60936666dup, NC_000014.8:g.60936654_60936666dup, NC_000014.8:g.60936666_60936667insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.60936666_60936667insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
2.
rs1491524384 has merged into rs33957461 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:60492613
(GRCh38)
14:60959331
(GRCh37)
- Canonical SPDI:
- NC_000014.9:60492603:AAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:60492603:AAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:60492603:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:60492603:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:60492603:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
- Gene:
- C14orf39 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
A=0.06/36
(NorthernSweden)
A=0.0778/300
(ALSPAC)
A=0.0874/324
(TWINSUK)
A=0.125/5
(GENOME_DK)
A=0.2075/1039
(1000Genomes)
- HGVS:
3.
rs1491474631 has merged into rs568727295 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGT>-,GT,GTGTGT,GTGTGTGT
[Show Flanks]
- Chromosome:
- 14:60501023
(GRCh38)
14:60967741
(GRCh37)
- Canonical SPDI:
- NC_000014.9:60501011:TGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000014.9:60501011:TGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000014.9:60501011:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000014.9:60501011:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT
- Gene:
- C14orf39 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGT=0./0
(
ALFA)
TGTG=0.00004/1
(TOMMO)
-=0.00802/8
(GoNL)
- HGVS:
NC_000014.9:g.60501013GT[5], NC_000014.9:g.60501013GT[6], NC_000014.9:g.60501013GT[8], NC_000014.9:g.60501013GT[9], NC_000014.8:g.60967731GT[5], NC_000014.8:g.60967731GT[6], NC_000014.8:g.60967731GT[8], NC_000014.8:g.60967731GT[9], XM_017021250.3:c.-1734CA[5], XM_017021250.3:c.-1734CA[6], XM_017021250.3:c.-1734CA[8], XM_017021250.3:c.-1734CA[9]
4.
rs1491454395 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TTGTGTGT
[Show Flanks]
- Chromosome:
- 14:60487493
(GRCh38)
14:60954212
(GRCh37)
- Canonical SPDI:
- NC_000014.9:60487493:TGTGTGT:TGTGTGTTTGTGTGT
- Gene:
- C14orf39 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TGTGTGTTTGTGTGT=0./0
(
ALFA)
- HGVS:
6.
rs1491256667 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 14:60469930
(GRCh38)
14:60936649
(GRCh37)
- Canonical SPDI:
- NC_000014.9:60469930::G
- Gene:
- C14orf39 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.00028/8
(TOMMO)
- HGVS:
7.
rs1491193546 has merged into rs1308228152 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 14:60487505
(GRCh38)
14:60954223
(GRCh37)
- Canonical SPDI:
- NC_000014.9:60487492:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000014.9:60487492:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000014.9:60487492:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000014.9:60487492:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000014.9:60487492:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000014.9:60487492:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:60487492:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:60487492:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:60487492:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:60487492:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:60487492:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:60487492:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:60487492:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:60487492:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- C14orf39 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGT=0./0
(
ALFA)
- HGVS:
NC_000014.9:g.60487493GT[6], NC_000014.9:g.60487493GT[7], NC_000014.9:g.60487493GT[8], NC_000014.9:g.60487493GT[9], NC_000014.9:g.60487493GT[10], NC_000014.9:g.60487493GT[12], NC_000014.9:g.60487493GT[13], NC_000014.9:g.60487493GT[14], NC_000014.9:g.60487493GT[15], NC_000014.9:g.60487493GT[16], NC_000014.9:g.60487493GT[17], NC_000014.9:g.60487493GT[18], NC_000014.9:g.60487493GT[19], NC_000014.9:g.60487493GT[20], NC_000014.8:g.60954211GT[6], NC_000014.8:g.60954211GT[7], NC_000014.8:g.60954211GT[8], NC_000014.8:g.60954211GT[9], NC_000014.8:g.60954211GT[10], NC_000014.8:g.60954211GT[12], NC_000014.8:g.60954211GT[13], NC_000014.8:g.60954211GT[14], NC_000014.8:g.60954211GT[15], NC_000014.8:g.60954211GT[16], NC_000014.8:g.60954211GT[17], NC_000014.8:g.60954211GT[18], NC_000014.8:g.60954211GT[19], NC_000014.8:g.60954211GT[20]
8.
rs1491082091 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 14:60461363
(GRCh38)
14:60928082
(GRCh37)
- Canonical SPDI:
- NC_000014.9:60461363:TTTTT:TTTTTT
- Gene:
- C14orf39 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,frameshift_variant
- HGVS:
NC_000014.9:g.60461368dup, NC_000014.8:g.60928086dup, XM_011536690.4:c.1215dup, XM_011536690.3:c.1215dup, XM_011536690.2:c.1215dup, XM_011536690.1:c.1215dup, XM_017021250.3:c.780dup, XM_017021250.2:c.780dup, XM_017021250.1:c.780dup, NM_174978.3:c.1107dup, NM_174978.2:c.1107dup, XM_017021248.3:c.1020dup, XM_017021248.2:c.1020dup, XM_017021248.1:c.1020dup, XM_011536703.3:c.1215dup, XM_011536703.2:c.1215dup, XM_011536703.1:c.1215dup, XM_017021247.2:c.1212dup, XM_017021247.1:c.1212dup, XM_024449555.2:c.1104dup, XM_024449555.1:c.1104dup, XM_017021251.2:c.780dup, XM_017021251.1:c.780dup, XM_047431322.1:c.1215dup, XM_047431323.1:c.1107dup, XM_047431326.1:c.1017dup, XM_047431324.1:c.1107dup, XM_047431325.1:c.1017dup, XM_047431327.1:c.1014dup, XP_011534992.1:p.Gly406fs, XP_016876739.1:p.Gly261fs, NP_777638.3:p.Gly370fs, XP_016876737.1:p.Gly341fs, XP_011535005.1:p.Gly406fs, XP_016876736.1:p.Gly405fs, XP_024305323.1:p.Gly369fs, XP_016876740.1:p.Gly261fs, XP_047287278.1:p.Gly406fs, XP_047287279.1:p.Gly370fs, XP_047287282.1:p.Gly340fs, XP_047287280.1:p.Gly370fs, XP_047287281.1:p.Gly340fs, XP_047287283.1:p.Gly339fs
9.
rs1491058691 has merged into rs66800067 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:60501317
(GRCh38)
14:60968035
(GRCh37)
- Canonical SPDI:
- NC_000014.9:60501306:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:60501306:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:60501306:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:60501306:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:60501306:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:60501306:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:60501306:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:60501306:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:60501306:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:60501306:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:60501306:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:60501306:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:60501306:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:60501306:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- C14orf39 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
A=0.2827/1416
(1000Genomes)
-=0.475/19
(GENOME_DK)
- HGVS:
NC_000014.9:g.60501317_60501325del, NC_000014.9:g.60501319_60501325del, NC_000014.9:g.60501320_60501325del, NC_000014.9:g.60501322_60501325del, NC_000014.9:g.60501323_60501325del, NC_000014.9:g.60501324_60501325del, NC_000014.9:g.60501325del, NC_000014.9:g.60501325dup, NC_000014.9:g.60501324_60501325dup, NC_000014.9:g.60501323_60501325dup, NC_000014.9:g.60501322_60501325dup, NC_000014.9:g.60501320_60501325dup, NC_000014.9:g.60501316_60501325dup, NC_000014.9:g.60501315_60501325dup, NC_000014.8:g.60968035_60968043del, NC_000014.8:g.60968037_60968043del, NC_000014.8:g.60968038_60968043del, NC_000014.8:g.60968040_60968043del, NC_000014.8:g.60968041_60968043del, NC_000014.8:g.60968042_60968043del, NC_000014.8:g.60968043del, NC_000014.8:g.60968043dup, NC_000014.8:g.60968042_60968043dup, NC_000014.8:g.60968041_60968043dup, NC_000014.8:g.60968040_60968043dup, NC_000014.8:g.60968038_60968043dup, NC_000014.8:g.60968034_60968043dup, NC_000014.8:g.60968033_60968043dup, XM_017021250.3:c.-2024_-2016del, XM_017021250.3:c.-2022_-2016del, XM_017021250.3:c.-2021_-2016del, XM_017021250.3:c.-2019_-2016del, XM_017021250.3:c.-2018_-2016del, XM_017021250.3:c.-2017_-2016del, XM_017021250.3:c.-2016del, XM_017021250.3:c.-2016dup, XM_017021250.3:c.-2017_-2016dup, XM_017021250.3:c.-2018_-2016dup, XM_017021250.3:c.-2019_-2016dup, XM_017021250.3:c.-2021_-2016dup, XM_017021250.3:c.-2025_-2016dup, XM_017021250.3:c.-2026_-2016dup
11.
rs1490994433 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:60484095
(GRCh38)
14:60950813
(GRCh37)
- Canonical SPDI:
- NC_000014.9:60484094:A:G
- Gene:
- C14orf39 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
13.
rs1490904638 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:60500535
(GRCh38)
14:60967253
(GRCh37)
- Canonical SPDI:
- NC_000014.9:60500534:A:G
- Gene:
- C14orf39 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
14.
rs1490890343 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 14:60501580
(GRCh38)
14:60968298
(GRCh37)
- Canonical SPDI:
- NC_000014.9:60501579:G:T
- Gene:
- C14orf39 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.00003/8
(TOPMED)
- HGVS:
15.
rs1490866965 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:60485269
(GRCh38)
14:60951987
(GRCh37)
- Canonical SPDI:
- NC_000014.9:60485268:C:A
- Gene:
- C14orf39 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
16.
rs1490858975 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:60500660
(GRCh38)
14:60967378
(GRCh37)
- Canonical SPDI:
- NC_000014.9:60500659:A:T
- Gene:
- C14orf39 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490784366 has merged into rs1224952126 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-,CACA,CACACA
[Show Flanks]
- Chromosome:
- 14:60491848
(GRCh38)
14:60958566
(GRCh37)
- Canonical SPDI:
- NC_000014.9:60491835:CACACACACACACA:CACACACACACA,NC_000014.9:60491835:CACACACACACACA:CACACACACACACACA,NC_000014.9:60491835:CACACACACACACA:CACACACACACACACACA
- Gene:
- C14orf39 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACA=0./0
(
ALFA)
CACA=0.000004/1
(TOPMED)
-=0.000298/5
(TOMMO)
- HGVS:
18.
rs1490767964 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:60492851
(GRCh38)
14:60959569
(GRCh37)
- Canonical SPDI:
- NC_000014.9:60492850:A:T
- Gene:
- C14orf39 (Varview)
- Functional Consequence:
- genic_upstream_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:
20.
rs1490734350 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:60468121
(GRCh38)
14:60934839
(GRCh37)
- Canonical SPDI:
- NC_000014.9:60468120:T:C
- Gene:
- C14orf39 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS: