Links from Gene
Items: 1 to 20 of 1000
1.
rs1491139536 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 17:35356833
(GRCh38)
17:33683852
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35356831:ATA:A
- Gene:
- SLFN11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.002939/48
(
ALFA)
-=0.001672/1
(NorthernSweden)
-=0.002599/359
(GnomAD)
-=0.015912/59
(TWINSUK)
-=0.021277/82
(ALSPAC)
- HGVS:
2.
rs1491033211 has merged into rs34445447 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 17:35375032
(GRCh38)
17:33702051
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35375023:AAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:35375023:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:35375023:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:35375023:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:35375023:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:35375023:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:35375023:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:35375023:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:35375023:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:35375023:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:35375023:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:35375023:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:35375023:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SLFN11 (Varview), LOC105371933 (Varview)
- Functional Consequence:
- upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
A=0.275/11
(GENOME_DK)
- HGVS:
NC_000017.11:g.35375032_35375038del, NC_000017.11:g.35375035_35375038del, NC_000017.11:g.35375036_35375038del, NC_000017.11:g.35375037_35375038del, NC_000017.11:g.35375038del, NC_000017.11:g.35375038dup, NC_000017.11:g.35375037_35375038dup, NC_000017.11:g.35375036_35375038dup, NC_000017.11:g.35375035_35375038dup, NC_000017.11:g.35375038_35375039insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.35375038_35375039insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.35375038_35375039insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.35375038_35375039insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.33702051_33702057del, NC_000017.10:g.33702054_33702057del, NC_000017.10:g.33702055_33702057del, NC_000017.10:g.33702056_33702057del, NC_000017.10:g.33702057del, NC_000017.10:g.33702057dup, NC_000017.10:g.33702056_33702057dup, NC_000017.10:g.33702055_33702057dup, NC_000017.10:g.33702054_33702057dup, NC_000017.10:g.33702057_33702058insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.33702057_33702058insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.33702057_33702058insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.33702057_33702058insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
3.
rs1491028615 has merged into rs61566848 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 17:35356817
(GRCh38)
17:33683836
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35356797:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000017.11:35356797:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000017.11:35356797:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000017.11:35356797:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000017.11:35356797:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000017.11:35356797:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000017.11:35356797:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000017.11:35356797:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000017.11:35356797:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000017.11:35356797:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000017.11:35356797:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:35356797:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:35356797:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:35356797:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:35356797:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:35356797:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:35356797:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:35356797:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- SLFN11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACACA=0./0
(
ALFA)
AC=0.2192/1098
(1000Genomes)
- HGVS:
NC_000017.11:g.35356799CA[9], NC_000017.11:g.35356799CA[10], NC_000017.11:g.35356799CA[11], NC_000017.11:g.35356799CA[12], NC_000017.11:g.35356799CA[13], NC_000017.11:g.35356799CA[14], NC_000017.11:g.35356799CA[15], NC_000017.11:g.35356799CA[16], NC_000017.11:g.35356799CA[18], NC_000017.11:g.35356799CA[19], NC_000017.11:g.35356799CA[20], NC_000017.11:g.35356799CA[21], NC_000017.11:g.35356799CA[22], NC_000017.11:g.35356799CA[23], NC_000017.11:g.35356799CA[24], NC_000017.11:g.35356799CA[25], NC_000017.11:g.35356799CA[26], NC_000017.11:g.35356799CA[27], NC_000017.10:g.33683818CA[9], NC_000017.10:g.33683818CA[10], NC_000017.10:g.33683818CA[11], NC_000017.10:g.33683818CA[12], NC_000017.10:g.33683818CA[13], NC_000017.10:g.33683818CA[14], NC_000017.10:g.33683818CA[15], NC_000017.10:g.33683818CA[16], NC_000017.10:g.33683818CA[18], NC_000017.10:g.33683818CA[19], NC_000017.10:g.33683818CA[20], NC_000017.10:g.33683818CA[21], NC_000017.10:g.33683818CA[22], NC_000017.10:g.33683818CA[23], NC_000017.10:g.33683818CA[24], NC_000017.10:g.33683818CA[25], NC_000017.10:g.33683818CA[26], NC_000017.10:g.33683818CA[27]
4.
rs1490918834 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 17:35356929
(GRCh38)
17:33683948
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35356928:C:G,NC_000017.11:35356928:C:T
- Gene:
- SLFN11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490594152 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:35368723
(GRCh38)
17:33695742
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35368722:C:T
- Gene:
- SLFN11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
6.
rs1490407555 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:35363645
(GRCh38)
17:33690664
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35363644:T:C
- Gene:
- SLFN11 (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:
NC_000017.11:g.35363645T>C, NC_000017.10:g.33690664T>C, NM_152270.4:c.163A>G, NM_152270.3:c.163A>G, NM_001104587.2:c.163A>G, NM_001104587.1:c.163A>G, NM_001104588.2:c.163A>G, NM_001104588.1:c.163A>G, NM_001104589.2:c.163A>G, NM_001104589.1:c.163A>G, NM_001104590.2:c.163A>G, NM_001104590.1:c.163A>G, NM_001376012.1:c.163A>G, NM_001376010.1:c.163A>G, NM_001376007.1:c.163A>G, NM_001376008.1:c.163A>G, NM_001376011.1:c.163A>G, NM_001387159.1:c.163A>G, NM_001387162.1:c.163A>G, NM_001376009.1:c.163A>G, NM_001387158.1:c.163A>G, NM_001387161.1:c.163A>G, XM_047437042.1:c.163A>G, NM_001387163.1:c.163A>G, NM_001387160.1:c.163A>G, NP_689483.3:p.Asn55Asp, NP_001098057.1:p.Asn55Asp, NP_001098058.1:p.Asn55Asp, NP_001098059.1:p.Asn55Asp, NP_001098060.1:p.Asn55Asp, NP_001362939.1:p.Asn55Asp, NP_001362936.1:p.Asn55Asp, NP_001362937.1:p.Asn55Asp, NP_001362940.1:p.Asn55Asp, NP_001374088.1:p.Asn55Asp, NP_001374091.1:p.Asn55Asp, NP_001362938.1:p.Asn55Asp, NP_001374087.1:p.Asn55Asp, NP_001374090.1:p.Asn55Asp, XP_047292998.1:p.Asn55Asp, NP_001374092.1:p.Asn55Asp, NP_001374089.1:p.Asn55Asp
7.
rs1490265241 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 17:35369709
(GRCh38)
17:33696728
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35369708:T:A
- Gene:
- SLFN11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
8.
rs1490208730 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 17:35370938
(GRCh38)
17:33697957
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35370937:AT:
- Gene:
- SLFN11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
9.
rs1490013033 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 17:35361873
(GRCh38)
17:33688892
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35361872:T:C,NC_000017.11:35361872:T:G
- Gene:
- SLFN11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
10.
rs1489899977 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 17:35361014
(GRCh38)
17:33688033
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35361013:T:G
- Gene:
- SLFN11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1489826679 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:35372976
(GRCh38)
17:33699995
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35372975:T:C
- Gene:
- SLFN11 (Varview), LOC105371933 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
12.
rs1489662945 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 17:35374994
(GRCh38)
17:33702013
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35374993:C:G,NC_000017.11:35374993:C:T
- Gene:
- SLFN11 (Varview), LOC105371933 (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1489432897 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:35367711
(GRCh38)
17:33694730
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35367710:A:G
- Gene:
- SLFN11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1489224413 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 17:35350263
(GRCh38)
17:33677282
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35350262:C:G
- Gene:
- SLFN11 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1489124077 has merged into rs1315189250 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 17:35370960
(GRCh38)
17:33697979
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35370959:AAAAAA:AAAAA,NC_000017.11:35370959:AAAAAA:AAAAAAA
- Gene:
- SLFN11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
-=0.00005/7
(GnomAD)
- HGVS:
17.
rs1489021565 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:35373174
(GRCh38)
17:33700193
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35373173:C:A
- Gene:
- SLFN11 (Varview), LOC105371933 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS:
19.
rs1488741075 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 17:35357768
(GRCh38)
17:33684787
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35357767:A:C,NC_000017.11:35357767:A:G
- Gene:
- SLFN11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
C=0.000035/1
(TOMMO)
- HGVS:
20.
rs1488672386 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 17:35367575
(GRCh38)
17:33694594
(GRCh37)
- Canonical SPDI:
- NC_000017.11:35367574:G:A,NC_000017.11:35367574:G:C
- Gene:
- SLFN11 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
NC_000017.11:g.35367575G>A, NC_000017.11:g.35367575G>C, NC_000017.10:g.33694594G>A, NC_000017.10:g.33694594G>C, NM_001104587.2:c.-171C>T, NM_001104587.2:c.-171C>G, NM_001104587.1:c.-171C>T, NM_001104587.1:c.-171C>G, NM_001376012.1:c.-648C>T, NM_001376012.1:c.-648C>G, NM_001376010.1:c.-151C>T, NM_001376010.1:c.-151C>G, NM_001376008.1:c.-171C>T, NM_001376008.1:c.-171C>G