Links from Gene
Items: 1 to 20 of 33037
5.
rs1491535364 has merged into rs1556119634 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT
[Show Flanks]
- Chromosome:
- X:132301870
(GRCh38)
X:131435898
(GRCh37)
- Canonical SPDI:
- NC_000023.11:132301868:TAT:T,NC_000023.11:132301868:TAT:TATAT
- Gene:
- RAP2C-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATAT=0./0
(
ALFA)
-=0.01142/33
(ALSPAC)
-=0.01456/54
(TWINSUK)
- HGVS:
6.
rs1491532110 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- X:132396592
(GRCh38)
X:131530620
(GRCh37)
- Canonical SPDI:
- NC_000023.11:132396591:CT:
- Gene:
- MBNL3 (Varview), RAP2C-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00048/23
(GnomAD)
-=0.00063/8
(TOMMO)
- HGVS:
10.
rs1491522982 has merged into rs1324106415 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT,ATATAT,ATATATAT
[Show Flanks]
- Chromosome:
- X:132396712
(GRCh38)
X:131530740
(GRCh37)
- Canonical SPDI:
- NC_000023.11:132396703:ATATATATAT:ATATATAT,NC_000023.11:132396703:ATATATATAT:ATATATATATAT,NC_000023.11:132396703:ATATATATAT:ATATATATATATAT,NC_000023.11:132396703:ATATATATAT:ATATATATATATATAT
- Gene:
- MBNL3 (Varview), RAP2C-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000023.11:g.132396704AT[4], NC_000023.11:g.132396704AT[6], NC_000023.11:g.132396704AT[7], NC_000023.11:g.132396704AT[8], NC_000023.10:g.131530732AT[4], NC_000023.10:g.131530732AT[6], NC_000023.10:g.131530732AT[7], NC_000023.10:g.131530732AT[8], NG_016324.2:g.98256AT[4], NG_016324.2:g.98256AT[6], NG_016324.2:g.98256AT[7], NG_016324.2:g.98256AT[8]
11.
rs1491521915 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- X:132396500
(GRCh38)
X:131530528
(GRCh37)
- Canonical SPDI:
- NC_000023.11:132396499:CT:
- Gene:
- MBNL3 (Varview), RAP2C-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00759/90
(
ALFA)
-=0.00463/274
(GnomAD)
- HGVS:
13.
rs1491501744 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- X:132301830
(GRCh38)
X:131435858
(GRCh37)
- Canonical SPDI:
- NC_000023.11:132301829:AT:
- Gene:
- RAP2C-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00034/4
(
ALFA)
-=0.00082/64
(GnomAD)
- HGVS:
14.
rs1491495147 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- X:132222895
(GRCh38)
X:131356923
(GRCh37)
- Canonical SPDI:
- NC_000023.11:132222894:AT:
- Gene:
- RAP2C-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
-=0.000019/5
(TOPMED)
- HGVS:
15.
rs1491447557 has merged into rs1044915567 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- X:132222896
(GRCh38)
X:131356924
(GRCh37)
- Canonical SPDI:
- NC_000023.11:132222895:TTTTTTTTTT:TTTTTTTTT,NC_000023.11:132222895:TTTTTTTTTT:TTTTTTTTTTT
- Gene:
- RAP2C-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.00117/15
(TOMMO)
- HGVS:
16.
rs1491443765 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- X:132218048
(GRCh38)
X:131352076
(GRCh37)
- Canonical SPDI:
- NC_000023.11:132218045:CGCG:CG
- Gene:
- RAP2C (Varview), RAP2C-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CGCG=0.00079/10
(
ALFA)
-=0.00518/27
(TOMMO)
- HGVS:
17.
rs1491437812 has merged into rs752404213 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- X:132238092
(GRCh38)
X:131372120
(GRCh37)
- Canonical SPDI:
- NC_000023.11:132238077:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:132238077:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:132238077:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:132238077:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:132238077:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:132238077:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
- Gene:
- RAP2C-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.346/1306
(1000Genomes)
- HGVS:
NC_000023.11:g.132238092_132238094del, NC_000023.11:g.132238093_132238094del, NC_000023.11:g.132238094del, NC_000023.11:g.132238094dup, NC_000023.11:g.132238093_132238094dup, NC_000023.11:g.132238092_132238094dup, NC_000023.10:g.131372120_131372122del, NC_000023.10:g.131372121_131372122del, NC_000023.10:g.131372122del, NC_000023.10:g.131372122dup, NC_000023.10:g.131372121_131372122dup, NC_000023.10:g.131372120_131372122dup
18.
rs1491377793 has merged into rs10707399 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT
[Show Flanks]
- Chromosome:
- X:132366312
(GRCh38)
X:131500340
(GRCh37)
- Canonical SPDI:
- NC_000023.11:132366299:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:132366299:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:132366299:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:132366299:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:132366299:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:132366299:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:132366299:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:132366299:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RAP2C-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.35205/1329
(1000Genomes)
- HGVS:
NC_000023.11:g.132366312_132366318del, NC_000023.11:g.132366316_132366318del, NC_000023.11:g.132366317_132366318del, NC_000023.11:g.132366318del, NC_000023.11:g.132366318dup, NC_000023.11:g.132366317_132366318dup, NC_000023.11:g.132366316_132366318dup, NC_000023.11:g.132366315_132366318dup, NC_000023.10:g.131500340_131500346del, NC_000023.10:g.131500344_131500346del, NC_000023.10:g.131500345_131500346del, NC_000023.10:g.131500346del, NC_000023.10:g.131500346dup, NC_000023.10:g.131500345_131500346dup, NC_000023.10:g.131500344_131500346dup, NC_000023.10:g.131500343_131500346dup
19.
rs1491372146 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- X:132396885
(GRCh38)
X:131530913
(GRCh37)
- Canonical SPDI:
- NC_000023.11:132396884:TT:
- Gene:
- MBNL3 (Varview), RAP2C-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00017/2
(
ALFA)
-=0.00045/6
(TOMMO)
-=0.00091/59
(GnomAD)
- HGVS:
20.
rs1491348002 has merged into rs1231418193 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT
[Show Flanks]
- Chromosome:
- X:132396460
(GRCh38)
X:131530488
(GRCh37)
- Canonical SPDI:
- NC_000023.11:132396452:TATATATATAT:TATATAT,NC_000023.11:132396452:TATATATATAT:TATATATAT,NC_000023.11:132396452:TATATATATAT:TATATATATATAT,NC_000023.11:132396452:TATATATATAT:TATATATATATATAT,NC_000023.11:132396452:TATATATATAT:TATATATATATATATAT
- Gene:
- MBNL3 (Varview), RAP2C-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATAT=0./0
(
ALFA)
TATA=0.000019/5
(TOPMED)
- HGVS:
NC_000023.11:g.132396454AT[3], NC_000023.11:g.132396454AT[4], NC_000023.11:g.132396454AT[6], NC_000023.11:g.132396454AT[7], NC_000023.11:g.132396454AT[8], NC_000023.10:g.131530482AT[3], NC_000023.10:g.131530482AT[4], NC_000023.10:g.131530482AT[6], NC_000023.10:g.131530482AT[7], NC_000023.10:g.131530482AT[8], NG_016324.2:g.98507TA[3], NG_016324.2:g.98507TA[4], NG_016324.2:g.98507TA[6], NG_016324.2:g.98507TA[7], NG_016324.2:g.98507TA[8]