Links from Gene
Items: 1 to 20 of 6143
1.
rs1491426594 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-,GTGT
[Show Flanks]
- Chromosome:
- 1:110038114
(GRCh38)
1:110580736
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110038112:TGT:T,NC_000001.11:110038112:TGT:TGTGT
- Gene:
- STRIP1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGT=0./0
(
ALFA)
TG=0.000008/1
(GnomAD)
-=0.000779/13
(TOMMO)
- HGVS:
2.
rs1491302318 has merged into rs746544010 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:110030918
(GRCh38)
1:110573540
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:110030909:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- STRIP1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.110030918_110030929del, NC_000001.11:g.110030920_110030929del, NC_000001.11:g.110030921_110030929del, NC_000001.11:g.110030922_110030929del, NC_000001.11:g.110030923_110030929del, NC_000001.11:g.110030925_110030929del, NC_000001.11:g.110030926_110030929del, NC_000001.11:g.110030927_110030929del, NC_000001.11:g.110030928_110030929del, NC_000001.11:g.110030929del, NC_000001.11:g.110030929dup, NC_000001.11:g.110030928_110030929dup, NC_000001.11:g.110030927_110030929dup, NC_000001.11:g.110030926_110030929dup, NC_000001.11:g.110030925_110030929dup, NC_000001.11:g.110030924_110030929dup, NC_000001.11:g.110030923_110030929dup, NC_000001.11:g.110030922_110030929dup, NC_000001.11:g.110030921_110030929dup, NC_000001.11:g.110030920_110030929dup, NC_000001.11:g.110030919_110030929dup, NC_000001.11:g.110030918_110030929dup, NC_000001.11:g.110030917_110030929dup, NC_000001.11:g.110030916_110030929dup, NC_000001.11:g.110030915_110030929dup, NC_000001.11:g.110030914_110030929dup, NC_000001.11:g.110030913_110030929dup, NC_000001.11:g.110030912_110030929dup, NC_000001.11:g.110030911_110030929dup, NC_000001.11:g.110030910_110030929dup, NC_000001.11:g.110030929_110030930insTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.110030929_110030930insTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.110030929_110030930insTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.110030929_110030930insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.110030929_110030930insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.110030929_110030930insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.110573540_110573551del, NC_000001.10:g.110573542_110573551del, NC_000001.10:g.110573543_110573551del, NC_000001.10:g.110573544_110573551del, NC_000001.10:g.110573545_110573551del, NC_000001.10:g.110573547_110573551del, NC_000001.10:g.110573548_110573551del, NC_000001.10:g.110573549_110573551del, NC_000001.10:g.110573550_110573551del, NC_000001.10:g.110573551del, NC_000001.10:g.110573551dup, NC_000001.10:g.110573550_110573551dup, NC_000001.10:g.110573549_110573551dup, NC_000001.10:g.110573548_110573551dup, NC_000001.10:g.110573547_110573551dup, NC_000001.10:g.110573546_110573551dup, NC_000001.10:g.110573545_110573551dup, NC_000001.10:g.110573544_110573551dup, NC_000001.10:g.110573543_110573551dup, NC_000001.10:g.110573542_110573551dup, NC_000001.10:g.110573541_110573551dup, NC_000001.10:g.110573540_110573551dup, NC_000001.10:g.110573539_110573551dup, NC_000001.10:g.110573538_110573551dup, NC_000001.10:g.110573537_110573551dup, NC_000001.10:g.110573536_110573551dup, NC_000001.10:g.110573535_110573551dup, NC_000001.10:g.110573534_110573551dup, NC_000001.10:g.110573533_110573551dup, NC_000001.10:g.110573532_110573551dup, NC_000001.10:g.110573551_110573552insTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.110573551_110573552insTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.110573551_110573552insTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.110573551_110573552insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.110573551_110573552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.110573551_110573552insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
3.
rs1491092724 has merged into rs3085770 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATATATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 1:110038080
(GRCh38)
1:110580702
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110038071:ATATATATATATATATATATATATATATATATATATATATAT:ATATATAT,NC_000001.11:110038071:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATAT,NC_000001.11:110038071:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATAT,NC_000001.11:110038071:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATAT,NC_000001.11:110038071:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATAT,NC_000001.11:110038071:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000001.11:110038071:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000001.11:110038071:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000001.11:110038071:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000001.11:110038071:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000001.11:110038071:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000001.11:110038071:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000001.11:110038071:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000001.11:110038071:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000001.11:110038071:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000001.11:110038071:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000001.11:110038071:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:110038071:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:110038071:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:110038071:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:110038071:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:110038071:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:110038071:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:110038071:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:110038071:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:110038071:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:110038071:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:110038071:ATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
- Gene:
- STRIP1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.110038072AT[4], NC_000001.11:g.110038072AT[5], NC_000001.11:g.110038072AT[6], NC_000001.11:g.110038072AT[7], NC_000001.11:g.110038072AT[8], NC_000001.11:g.110038072AT[9], NC_000001.11:g.110038072AT[10], NC_000001.11:g.110038072AT[11], NC_000001.11:g.110038072AT[12], NC_000001.11:g.110038072AT[13], NC_000001.11:g.110038072AT[14], NC_000001.11:g.110038072AT[15], NC_000001.11:g.110038072AT[16], NC_000001.11:g.110038072AT[17], NC_000001.11:g.110038072AT[18], NC_000001.11:g.110038072AT[19], NC_000001.11:g.110038072AT[20], NC_000001.11:g.110038072AT[22], NC_000001.11:g.110038072AT[23], NC_000001.11:g.110038072AT[24], NC_000001.11:g.110038072AT[25], NC_000001.11:g.110038072AT[26], NC_000001.11:g.110038072AT[27], NC_000001.11:g.110038072AT[28], NC_000001.11:g.110038072AT[29], NC_000001.11:g.110038072AT[30], NC_000001.11:g.110038072AT[31], NC_000001.11:g.110038072AT[32], NC_000001.10:g.110580694AT[4], NC_000001.10:g.110580694AT[5], NC_000001.10:g.110580694AT[6], NC_000001.10:g.110580694AT[7], NC_000001.10:g.110580694AT[8], NC_000001.10:g.110580694AT[9], NC_000001.10:g.110580694AT[10], NC_000001.10:g.110580694AT[11], NC_000001.10:g.110580694AT[12], NC_000001.10:g.110580694AT[13], NC_000001.10:g.110580694AT[14], NC_000001.10:g.110580694AT[15], NC_000001.10:g.110580694AT[16], NC_000001.10:g.110580694AT[17], NC_000001.10:g.110580694AT[18], NC_000001.10:g.110580694AT[19], NC_000001.10:g.110580694AT[20], NC_000001.10:g.110580694AT[22], NC_000001.10:g.110580694AT[23], NC_000001.10:g.110580694AT[24], NC_000001.10:g.110580694AT[25], NC_000001.10:g.110580694AT[26], NC_000001.10:g.110580694AT[27], NC_000001.10:g.110580694AT[28], NC_000001.10:g.110580694AT[29], NC_000001.10:g.110580694AT[30], NC_000001.10:g.110580694AT[31], NC_000001.10:g.110580694AT[32]
4.
rs1491086488 has merged into rs201513805 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:110031912
(GRCh38)
1:110574534
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110031899:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:110031899:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:110031899:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:110031899:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:110031899:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:110031899:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:110031899:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:110031899:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:110031899:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- STRIP1 (Varview), LOC105378895 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
T=0.006667/4
(NorthernSweden)
- HGVS:
NC_000001.11:g.110031912_110031916del, NC_000001.11:g.110031913_110031916del, NC_000001.11:g.110031914_110031916del, NC_000001.11:g.110031915_110031916del, NC_000001.11:g.110031916del, NC_000001.11:g.110031916dup, NC_000001.11:g.110031915_110031916dup, NC_000001.11:g.110031914_110031916dup, NC_000001.11:g.110031902_110031916dup, NC_000001.10:g.110574534_110574538del, NC_000001.10:g.110574535_110574538del, NC_000001.10:g.110574536_110574538del, NC_000001.10:g.110574537_110574538del, NC_000001.10:g.110574538del, NC_000001.10:g.110574538dup, NC_000001.10:g.110574537_110574538dup, NC_000001.10:g.110574536_110574538dup, NC_000001.10:g.110574524_110574538dup
6.
rs1490523468 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 1:110033399
(GRCh38)
1:110576021
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110033398:T:C,NC_000001.11:110033398:T:G
- Gene:
- STRIP1 (Varview), LOC105378895 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000001.11:g.110033399T>C, NC_000001.11:g.110033399T>G, NC_000001.10:g.110576021T>C, NC_000001.10:g.110576021T>G, XR_947692.3:n.514A>G, XR_947692.3:n.514A>C, XR_947692.2:n.427A>G, XR_947692.2:n.427A>C, XR_947692.1:n.427A>G, XR_947692.1:n.427A>C, XR_947693.3:n.64A>G, XR_947693.3:n.64A>C, XR_947693.2:n.64A>G, XR_947693.2:n.64A>C, XR_947693.1:n.136A>G, XR_947693.1:n.136A>C
7.
rs1490277964 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:110047904
(GRCh38)
1:110590526
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110047903:A:G
- Gene:
- STRIP1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_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:
8.
rs1490243537 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:110046966
(GRCh38)
1:110589588
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110046965:C:T
- Gene:
- STRIP1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000038/10
(TOPMED)
- HGVS:
9.
rs1490210693 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 1:110031092
(GRCh38)
1:110573714
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110031091:G:C,NC_000001.11:110031091:G:T
- Gene:
- STRIP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490171237 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:110038927
(GRCh38)
1:110581549
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110038926:G:A,NC_000001.11:110038926:G:C
- Gene:
- STRIP1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
C=0.000071/1
(TOMMO)
- HGVS:
13.
rs1489711034 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:110047377
(GRCh38)
1:110589999
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110047376:A:G
- Gene:
- STRIP1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
14.
rs1489469002 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:110053946
(GRCh38)
1:110596568
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110053945:A:G
- Gene:
- STRIP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000001.11:g.110053946A>G, NC_000001.10:g.110596568A>G, NM_033088.4:c.*34A>G, NM_033088.3:c.*34A>G, XM_006710995.3:c.*34A>G, XM_006710995.2:c.*34A>G, XM_006710995.1:c.*34A>G, NR_073071.2:n.2676A>G, NR_073071.1:n.2699A>G, NM_001270768.2:c.*34A>G, NM_001270768.1:c.*34A>G
15.
rs1489462318 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:110049892
(GRCh38)
1:110592514
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110049891:G:A
- Gene:
- STRIP1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
A=0.000071/1
(TOMMO)
- HGVS:
16.
rs1489421130 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:110031016
(GRCh38)
1:110573638
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110031015:G:A
- Gene:
- STRIP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1489381321 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:110034262
(GRCh38)
1:110576884
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110034261:T:C
- Gene:
- STRIP1 (Varview), LOC105378895 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
18.
rs1489288875 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 1:110034352
(GRCh38)
1:110576974
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110034351:C:A,NC_000001.11:110034351:C:G
- Gene:
- STRIP1 (Varview), LOC105378895 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
20.
rs1488830955 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:110048079
(GRCh38)
1:110590701
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110048078:T:C
- Gene:
- STRIP1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: