Links from Gene
Items: 1 to 20 of 730
1.
rs1490800340 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:41517771
(GRCh38)
17:39674023
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41517770:T:C
- Gene:
- KRT15 (Varview), MIR6510 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
2.
rs1488905226 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 17:41517595
(GRCh38)
17:39673847
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41517594:C:A,NC_000017.11:41517594:C:G
- Gene:
- KRT15 (Varview), MIR6510 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
G=0.000035/1
(TOMMO)
A=0.000042/1
(GnomAD_exomes)
A=0.000042/11
(TOPMED)
A=0.000043/6
(GnomAD)
- HGVS:
3.
rs1488402333 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 17:41517203
(GRCh38)
17:39673455
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41517202:C:G
- Gene:
- KRT15 (Varview), MIR6510 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000035/1
(TOMMO)
- HGVS:
4.
rs1486557603 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 17:41517331
(GRCh38)
17:39673583
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41517330:CC:C
- Gene:
- KRT15 (Varview), MIR6510 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
5.
rs1485910401 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:41518002
(GRCh38)
17:39674254
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41518001:C:T
- Gene:
- KRT15 (Varview), MIR6510 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
6.
rs1483317138 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:41518589
(GRCh38)
17:39674841
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41518588:C:T
- Gene:
- KRT15 (Varview), MIR6510 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
NC_000017.11:g.41518589C>T, NC_000017.10:g.39674841C>T, NG_012284.1:g.5430G>A, NM_002275.4:c.239G>A, NM_002275.3:c.239G>A, XM_011524784.4:c.239G>A, XM_011524784.3:c.239G>A, XM_011524784.2:c.239G>A, XM_011524784.1:c.239G>A, XM_017024614.3:c.239G>A, XM_017024614.2:c.239G>A, XM_017024614.1:c.239G>A, NP_002266.3:p.Gly80Asp, XP_011523086.1:p.Gly80Asp, XP_016880103.1:p.Gly80Asp
7.
rs1483219262 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 17:41518824
(GRCh38)
17:39675076
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41518823:T:A
- Gene:
- KRT15 (Varview), MIR6510 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
A=0.000006/1
(GnomAD_exomes)
- HGVS:
NC_000017.11:g.41518824T>A, NC_000017.10:g.39675076T>A, NG_012284.1:g.5195A>T, NM_002275.4:c.4A>T, NM_002275.3:c.4A>T, XM_011524784.4:c.4A>T, XM_011524784.3:c.4A>T, XM_011524784.2:c.4A>T, XM_011524784.1:c.4A>T, XM_017024614.3:c.4A>T, XM_017024614.2:c.4A>T, XM_017024614.1:c.4A>T, NP_002266.3:p.Thr2Ser, XP_011523086.1:p.Thr2Ser, XP_016880103.1:p.Thr2Ser
8.
rs1482803950 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:41517485
(GRCh38)
17:39673737
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41517484:C:A
- Gene:
- KRT15 (Varview), MIR6510 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
9.
rs1482324381 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:41518145
(GRCh38)
17:39674397
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41518144:G:A
- Gene:
- KRT15 (Varview), MIR6510 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000036/5
(GnomAD)
A=0.000042/11
(TOPMED)
- HGVS:
10.
rs1481491028 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 17:41517161
(GRCh38)
17:39673413
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41517160:A:G,NC_000017.11:41517160:A:T
- Gene:
- KRT15 (Varview), MIR6510 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0./0
(GnomAD)
G=0.000008/2
(GnomAD_exomes)
- HGVS:
NC_000017.11:g.41517161A>G, NC_000017.11:g.41517161A>T, NC_000017.10:g.39673413A>G, NC_000017.10:g.39673413A>T, NG_012284.1:g.6858T>C, NG_012284.1:g.6858T>A, NM_002275.4:c.503T>C, NM_002275.4:c.503T>A, NM_002275.3:c.503T>C, NM_002275.3:c.503T>A, XM_011524784.4:c.503T>C, XM_011524784.4:c.503T>A, XM_011524784.3:c.503T>C, XM_011524784.3:c.503T>A, XM_011524784.2:c.503T>C, XM_011524784.2:c.503T>A, XM_011524784.1:c.503T>C, XM_011524784.1:c.503T>A, XM_017024614.3:c.503T>C, XM_017024614.3:c.503T>A, XM_017024614.2:c.503T>C, XM_017024614.2:c.503T>A, XM_017024614.1:c.503T>C, XM_017024614.1:c.503T>A, NP_002266.3:p.Met168Thr, NP_002266.3:p.Met168Lys, XP_011523086.1:p.Met168Thr, XP_011523086.1:p.Met168Lys, XP_016880103.1:p.Met168Thr, XP_016880103.1:p.Met168Lys
11.
rs1478544702 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 17:41517874
(GRCh38)
17:39674126
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41517873:G:C
- Gene:
- KRT15 (Varview), MIR6510 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,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:
12.
rs1478336712 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:41518830
(GRCh38)
17:39675082
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41518829:C:A
- Gene:
- KRT15 (Varview), MIR6510 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000006/1
(GnomAD_exomes)
- HGVS:
NC_000017.11:g.41518830C>A, NC_000017.10:g.39675082C>A, NG_012284.1:g.5189G>T, NM_002275.4:c.-3G>T, NM_002275.3:c.-3G>T, XM_011524784.4:c.-3G>T, XM_011524784.3:c.-3G>T, XM_011524784.2:c.-3G>T, XM_011524784.1:c.-3G>T, XM_017024614.3:c.-3G>T, XM_017024614.2:c.-3G>T, XM_017024614.1:c.-3G>T
13.
rs1475992312 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:41517264
(GRCh38)
17:39673516
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41517263:A:G
- Gene:
- KRT15 (Varview), MIR6510 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
14.
rs1474709649 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 17:41518085
(GRCh38)
17:39674337
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41518084:C:G,NC_000017.11:41518084:C:T
- Gene:
- KRT15 (Varview), MIR6510 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1474162804 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:41518462
(GRCh38)
17:39674714
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41518461:C:T
- Gene:
- KRT15 (Varview), MIR6510 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000017.11:g.41518462C>T, NC_000017.10:g.39674714C>T, NG_012284.1:g.5557G>A, NM_002275.4:c.366G>A, NM_002275.3:c.366G>A, XM_011524784.4:c.366G>A, XM_011524784.3:c.366G>A, XM_011524784.2:c.366G>A, XM_011524784.1:c.366G>A, XM_017024614.3:c.366G>A, XM_017024614.2:c.366G>A, XM_017024614.1:c.366G>A
16.
rs1473208288 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 17:41518041
(GRCh38)
17:39674293
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41518040:T:A
- Gene:
- KRT15 (Varview), MIR6510 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_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)
- HGVS:
18.
rs1471797738 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:41517194
(GRCh38)
17:39673446
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41517193:G:A
- Gene:
- KRT15 (Varview), MIR6510 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1470786935 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:41516819
(GRCh38)
17:39673071
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41516818:T:C
- Gene:
- KRT15 (Varview), MIR6510 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000017.11:g.41516819T>C, NC_000017.10:g.39673071T>C, NG_012284.1:g.7200A>G, NM_002275.4:c.727A>G, NM_002275.3:c.727A>G, XM_011524784.4:c.727A>G, XM_011524784.3:c.727A>G, XM_011524784.2:c.727A>G, XM_011524784.1:c.727A>G, XM_017024614.3:c.727A>G, XM_017024614.2:c.727A>G, XM_017024614.1:c.727A>G, NP_002266.3:p.Asn243Asp, XP_011523086.1:p.Asn243Asp, XP_016880103.1:p.Asn243Asp
20.
rs1468870713 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:41518801
(GRCh38)
17:39675053
(GRCh37)
- Canonical SPDI:
- NC_000017.11:41518800:A:G
- Gene:
- KRT15 (Varview), MIR6510 (Varview)
- Functional Consequence:
- synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000142/2
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
NC_000017.11:g.41518801A>G, NC_000017.10:g.39675053A>G, NG_012284.1:g.5218T>C, NM_002275.4:c.27T>C, NM_002275.3:c.27T>C, XM_011524784.4:c.27T>C, XM_011524784.3:c.27T>C, XM_011524784.2:c.27T>C, XM_011524784.1:c.27T>C, XM_017024614.3:c.27T>C, XM_017024614.2:c.27T>C, XM_017024614.1:c.27T>C