Links from Gene
Items: 1 to 20 of 4813
1.
rs1491433744 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 1:15849937
(GRCh38)
1:16176433
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15849937:A:AA
- Gene:
- SPEN (Varview), SPEN-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
3.
rs1491327384 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:15849937
(GRCh38)
1:16176432
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15849936:CA:
- Gene:
- SPEN (Varview), SPEN-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
4.
rs1491306942 has merged into rs1163703776 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTTT>-,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:15844556
(GRCh38)
1:16171051
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SPEN-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.15844556_15844575del, NC_000001.11:g.15844561_15844575del, NC_000001.11:g.15844563_15844575del, NC_000001.11:g.15844564_15844575del, NC_000001.11:g.15844565_15844575del, NC_000001.11:g.15844566_15844575del, NC_000001.11:g.15844567_15844575del, NC_000001.11:g.15844568_15844575del, NC_000001.11:g.15844569_15844575del, NC_000001.11:g.15844570_15844575del, NC_000001.11:g.15844571_15844575del, NC_000001.11:g.15844572_15844575del, NC_000001.11:g.15844573_15844575del, NC_000001.11:g.15844574_15844575del, NC_000001.11:g.15844575del, NC_000001.11:g.15844575dup, NC_000001.11:g.15844574_15844575dup, NC_000001.11:g.15844573_15844575dup, NC_000001.11:g.15844572_15844575dup, NC_000001.11:g.15844571_15844575dup, NC_000001.11:g.15844570_15844575dup, NC_000001.11:g.15844569_15844575dup, NC_000001.11:g.15844568_15844575dup, NC_000001.11:g.15844567_15844575dup, NC_000001.11:g.15844564_15844575dup, NC_000001.11:g.15844575_15844576insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.15844575_15844576insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.15844575_15844576insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.16171051_16171070del, NC_000001.10:g.16171056_16171070del, NC_000001.10:g.16171058_16171070del, NC_000001.10:g.16171059_16171070del, NC_000001.10:g.16171060_16171070del, NC_000001.10:g.16171061_16171070del, NC_000001.10:g.16171062_16171070del, NC_000001.10:g.16171063_16171070del, NC_000001.10:g.16171064_16171070del, NC_000001.10:g.16171065_16171070del, NC_000001.10:g.16171066_16171070del, NC_000001.10:g.16171067_16171070del, NC_000001.10:g.16171068_16171070del, NC_000001.10:g.16171069_16171070del, NC_000001.10:g.16171070del, NC_000001.10:g.16171070dup, NC_000001.10:g.16171069_16171070dup, NC_000001.10:g.16171068_16171070dup, NC_000001.10:g.16171067_16171070dup, NC_000001.10:g.16171066_16171070dup, NC_000001.10:g.16171065_16171070dup, NC_000001.10:g.16171064_16171070dup, NC_000001.10:g.16171063_16171070dup, NC_000001.10:g.16171062_16171070dup, NC_000001.10:g.16171059_16171070dup, NC_000001.10:g.16171070_16171071insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.16171070_16171071insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.16171070_16171071insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_050663.1:g.1693_1712del, NG_050663.1:g.1698_1712del, NG_050663.1:g.1700_1712del, NG_050663.1:g.1701_1712del, NG_050663.1:g.1702_1712del, NG_050663.1:g.1703_1712del, NG_050663.1:g.1704_1712del, NG_050663.1:g.1705_1712del, NG_050663.1:g.1706_1712del, NG_050663.1:g.1707_1712del, NG_050663.1:g.1708_1712del, NG_050663.1:g.1709_1712del, NG_050663.1:g.1710_1712del, NG_050663.1:g.1711_1712del, NG_050663.1:g.1712del, NG_050663.1:g.1712dup, NG_050663.1:g.1711_1712dup, NG_050663.1:g.1710_1712dup, NG_050663.1:g.1709_1712dup, NG_050663.1:g.1708_1712dup, NG_050663.1:g.1707_1712dup, NG_050663.1:g.1706_1712dup, NG_050663.1:g.1705_1712dup, NG_050663.1:g.1704_1712dup, NG_050663.1:g.1701_1712dup, NG_050663.1:g.1712_1713insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_050663.1:g.1712_1713insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_050663.1:g.1712_1713insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
5.
rs1491269103 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATC
[Show Flanks]
- Chromosome:
- 1:15843071
(GRCh38)
1:16169567
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15843071:CATC:CATCATC
- Gene:
- SPEN-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CATCATC=0.000071/1
(
ALFA)
CAT=0.000004/1
(TOPMED)
CAT=0.000008/1
(GnomAD)
- HGVS:
6.
rs1491231430 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTC
[Show Flanks]
- Chromosome:
- 1:15837998
(GRCh38)
1:16164494
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15837998:CTC:CTCCTC
- Gene:
- SPEN-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCCTC=0.000071/1
(
ALFA)
CTC=0.000004/1
(TOPMED)
CTC=0.000014/2
(GnomAD)
- HGVS:
7.
rs1491167001 has merged into rs1243642084 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTCT>-,CT
[Show Flanks]
- Chromosome:
- 1:15838001
(GRCh38)
1:16164496
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15837997:TCTCTCT:TCT,NC_000001.11:15837997:TCTCTCT:TCTCT
- Gene:
- SPEN-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCT=0./0
(
ALFA)
-=0.000128/34
(TOPMED)
-=0.000143/20
(GnomAD)
- HGVS:
8.
rs1491093718 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CC>-
[Show Flanks]
- Chromosome:
- 1:15843071
(GRCh38)
1:16169566
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15843070:CC:
- Gene:
- SPEN-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.0008/13
(
ALFA)
-=0.00042/7
(TOMMO)
-=0.0029/13
(Estonian)
- HGVS:
9.
rs1490908713 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:15834491
(GRCh38)
1:16160986
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15834490:C:T
- Gene:
- SPEN-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490881093 has merged into rs1163703776 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTTT>-,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:15844556
(GRCh38)
1:16171051
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:15844551:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SPEN-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.15844556_15844575del, NC_000001.11:g.15844561_15844575del, NC_000001.11:g.15844563_15844575del, NC_000001.11:g.15844564_15844575del, NC_000001.11:g.15844565_15844575del, NC_000001.11:g.15844566_15844575del, NC_000001.11:g.15844567_15844575del, NC_000001.11:g.15844568_15844575del, NC_000001.11:g.15844569_15844575del, NC_000001.11:g.15844570_15844575del, NC_000001.11:g.15844571_15844575del, NC_000001.11:g.15844572_15844575del, NC_000001.11:g.15844573_15844575del, NC_000001.11:g.15844574_15844575del, NC_000001.11:g.15844575del, NC_000001.11:g.15844575dup, NC_000001.11:g.15844574_15844575dup, NC_000001.11:g.15844573_15844575dup, NC_000001.11:g.15844572_15844575dup, NC_000001.11:g.15844571_15844575dup, NC_000001.11:g.15844570_15844575dup, NC_000001.11:g.15844569_15844575dup, NC_000001.11:g.15844568_15844575dup, NC_000001.11:g.15844567_15844575dup, NC_000001.11:g.15844564_15844575dup, NC_000001.11:g.15844575_15844576insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.15844575_15844576insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.15844575_15844576insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.16171051_16171070del, NC_000001.10:g.16171056_16171070del, NC_000001.10:g.16171058_16171070del, NC_000001.10:g.16171059_16171070del, NC_000001.10:g.16171060_16171070del, NC_000001.10:g.16171061_16171070del, NC_000001.10:g.16171062_16171070del, NC_000001.10:g.16171063_16171070del, NC_000001.10:g.16171064_16171070del, NC_000001.10:g.16171065_16171070del, NC_000001.10:g.16171066_16171070del, NC_000001.10:g.16171067_16171070del, NC_000001.10:g.16171068_16171070del, NC_000001.10:g.16171069_16171070del, NC_000001.10:g.16171070del, NC_000001.10:g.16171070dup, NC_000001.10:g.16171069_16171070dup, NC_000001.10:g.16171068_16171070dup, NC_000001.10:g.16171067_16171070dup, NC_000001.10:g.16171066_16171070dup, NC_000001.10:g.16171065_16171070dup, NC_000001.10:g.16171064_16171070dup, NC_000001.10:g.16171063_16171070dup, NC_000001.10:g.16171062_16171070dup, NC_000001.10:g.16171059_16171070dup, NC_000001.10:g.16171070_16171071insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.16171070_16171071insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.16171070_16171071insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_050663.1:g.1693_1712del, NG_050663.1:g.1698_1712del, NG_050663.1:g.1700_1712del, NG_050663.1:g.1701_1712del, NG_050663.1:g.1702_1712del, NG_050663.1:g.1703_1712del, NG_050663.1:g.1704_1712del, NG_050663.1:g.1705_1712del, NG_050663.1:g.1706_1712del, NG_050663.1:g.1707_1712del, NG_050663.1:g.1708_1712del, NG_050663.1:g.1709_1712del, NG_050663.1:g.1710_1712del, NG_050663.1:g.1711_1712del, NG_050663.1:g.1712del, NG_050663.1:g.1712dup, NG_050663.1:g.1711_1712dup, NG_050663.1:g.1710_1712dup, NG_050663.1:g.1709_1712dup, NG_050663.1:g.1708_1712dup, NG_050663.1:g.1707_1712dup, NG_050663.1:g.1706_1712dup, NG_050663.1:g.1705_1712dup, NG_050663.1:g.1704_1712dup, NG_050663.1:g.1701_1712dup, NG_050663.1:g.1712_1713insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_050663.1:g.1712_1713insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_050663.1:g.1712_1713insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
11.
rs1490765635 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:15837385
(GRCh38)
1:16163880
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15837384:C:T
- Gene:
- SPEN-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490661958 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:15844820
(GRCh38)
1:16171315
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15844819:A:G
- Gene:
- SPEN-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000036/5
(GnomAD)
G=0.000389/7
(TOMMO)
- HGVS:
14.
rs1490285394 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:15841222
(GRCh38)
1:16167717
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15841221:G:A
- Gene:
- SPEN-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000224/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
15.
rs1490091941 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:15834698
(GRCh38)
1:16161193
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15834697:T:C
- Gene:
- SPEN-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
16.
rs1489962311 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:15838631
(GRCh38)
1:16165126
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15838630:G:A,NC_000001.11:15838630:G:T
- Gene:
- SPEN-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(Korea1K)
A=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
A=0.000156/1
(1000Genomes)
T=0.000342/1
(KOREAN)
T=0.000495/8
(TOMMO)
- HGVS:
17.
rs1489558319 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:15842617
(GRCh38)
1:16169112
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15842616:C:G
- Gene:
- SPEN-AS1 (Varview)
- Functional Consequence:
- 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:
18.
rs1489328424 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:15849623
(GRCh38)
1:16176118
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15849622:G:A,NC_000001.11:15849622:G:T
- Gene:
- SPEN (Varview), SPEN-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1489187758 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:15840002
(GRCh38)
1:16166497
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15840001:T:C
- Gene:
- SPEN-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
20.
rs1489142605 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:15842183
(GRCh38)
1:16168678
(GRCh37)
- Canonical SPDI:
- NC_000001.11:15842182:G:A,NC_000001.11:15842182:G:T
- Gene:
- SPEN-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00086/14
(
ALFA)
A=0.00137/23
(TOMMO)
A=0.02637/77
(KOREAN)
- HGVS: