Links from Nucleotide
Items: 1 to 20 of 1000
1.
rs1491539956 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 7:24713112
(GRCh38)
7:24752731
(GRCh37)
- Canonical SPDI:
- NC_000007.14:24713110:ATA:A
- Gene:
- GSDME (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
2.
rs1491520142 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,ATA,ATATA
[Show Flanks]
- Chromosome:
- 7:24748169
(GRCh38)
7:24787789
(GRCh37)
- Canonical SPDI:
- NC_000007.14:24748169::A,NC_000007.14:24748169::ATA,NC_000007.14:24748169::ATATA
- Gene:
- GSDME (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATA=0./0
(
ALFA)
A=0.00421/40
(TOMMO)
A=0.00629/6
(Korea1K)
- HGVS:
4.
rs1491512388 has merged into rs1386568097 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 7:24759877
(GRCh38)
7:24799496
(GRCh37)
- Canonical SPDI:
- NC_000007.14:24759876:AAAAAAA:AAAAAA,NC_000007.14:24759876:AAAAAAA:AAAAAAAA
- Gene:
- GSDME (Varview), LOC124901820 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAA=0.000054/1
(
ALFA)
-=0.000021/3
(GnomAD)
-=0.000035/1
(TOMMO)
-=0.000223/1
(Estonian)
- HGVS:
5.
rs1491406473 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 7:24744984
(GRCh38)
7:24784603
(GRCh37)
- Canonical SPDI:
- NC_000007.14:24744983:CG:
- Gene:
- GSDME (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00002/1
(GnomAD)
- HGVS:
6.
rs1491391710 has merged into rs34712480 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:24754497
(GRCh38)
7:24794116
(GRCh37)
- Canonical SPDI:
- NC_000007.14:24754485:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:24754485:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:24754485:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:24754485:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:24754485:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:24754485:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:24754485:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:24754485:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:24754485:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:24754485:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- GSDME (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.1897/731
(ALSPAC)
-=0.4968/2488
(1000Genomes)
- HGVS:
NC_000007.14:g.24754497_24754502del, NC_000007.14:g.24754498_24754502del, NC_000007.14:g.24754499_24754502del, NC_000007.14:g.24754500_24754502del, NC_000007.14:g.24754501_24754502del, NC_000007.14:g.24754502del, NC_000007.14:g.24754502dup, NC_000007.14:g.24754501_24754502dup, NC_000007.14:g.24754496_24754502dup, NC_000007.14:g.24754493_24754502dup, NC_000007.13:g.24794116_24794121del, NC_000007.13:g.24794117_24794121del, NC_000007.13:g.24794118_24794121del, NC_000007.13:g.24794119_24794121del, NC_000007.13:g.24794120_24794121del, NC_000007.13:g.24794121del, NC_000007.13:g.24794121dup, NC_000007.13:g.24794120_24794121dup, NC_000007.13:g.24794115_24794121dup, NC_000007.13:g.24794112_24794121dup, NG_011593.1:g.8530_8535del, NG_011593.1:g.8531_8535del, NG_011593.1:g.8532_8535del, NG_011593.1:g.8533_8535del, NG_011593.1:g.8534_8535del, NG_011593.1:g.8535del, NG_011593.1:g.8535dup, NG_011593.1:g.8534_8535dup, NG_011593.1:g.8529_8535dup, NG_011593.1:g.8526_8535dup
7.
rs1491331096 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 7:24706409
(GRCh38)
7:24746028
(GRCh37)
- Canonical SPDI:
- NC_000007.14:24706405:ACACA:ACA
- Gene:
- GSDME (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACA=0.000071/1
(
ALFA)
-=0.000019/5
(TOPMED)
-=0.000029/4
(GnomAD)
- HGVS:
8.
rs1491322566 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 7:24759876
(GRCh38)
7:24799495
(GRCh37)
- Canonical SPDI:
- NC_000007.14:24759875:TA:
- Gene:
- GSDME (Varview), LOC124901820 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000019/5
(TOPMED)
- HGVS:
10.
rs1491241831 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GCCTGCTGTGGAGTGAGGCGA
[Show Flanks]
- Chromosome:
- 7:24706796
(GRCh38)
7:24746416
(GRCh37)
- Canonical SPDI:
- NC_000007.14:24706796:GAGCCTGCTGTGGAGTGAGGCGA:GAGCCTGCTGTGGAGTGAGGCGAGCCTGCTGTGGAGTGAGGCGA
- Gene:
- GSDME (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GAGCCTGCTGTGGAGTGAGGCGAGCCTGCTGTGGAGTGAGGCGA=0./0
(
ALFA)
GAGCCTGCTGTGGAGTGAGGC=0.000004/1
(TOPMED)
- HGVS:
11.
rs1491208830 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 7:24713111
(GRCh38)
7:24752731
(GRCh37)
- Canonical SPDI:
- NC_000007.14:24713111:T:TT
- Gene:
- GSDME (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
- HGVS:
12.
rs1491177054 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 7:24705997
(GRCh38)
7:24745616
(GRCh37)
- Canonical SPDI:
- NC_000007.14:24705994:CACA:CA
- Gene:
- GSDME (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
13.
rs1491163377 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,AA,AAA
[Show Flanks]
- Chromosome:
- 7:24762248
(GRCh38)
7:24801868
(GRCh37)
- Canonical SPDI:
- NC_000007.14:24762248::A,NC_000007.14:24762248::AA,NC_000007.14:24762248::AAA
- Gene:
- GSDME (Varview), LOC124901820 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
AA=0.00024/4
(TOMMO)
- HGVS:
14.
rs1491152143 has merged into rs3038357 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG>-,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 7:24744998
(GRCh38)
7:24784617
(GRCh37)
- Canonical SPDI:
- NC_000007.14:24744984:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000007.14:24744984:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000007.14:24744984:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000007.14:24744984:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000007.14:24744984:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:24744984:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:24744984:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:24744984:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:24744984:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:24744984:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:24744984:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:24744984:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:24744984:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:24744984:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:24744984:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:24744984:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:24744984:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:24744984:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:24744984:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:24744984:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:24744984:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:24744984:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:24744984:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:24744984:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:24744984:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:24744984:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:24744984:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- GSDME (Varview)
- Functional Consequence:
- intron_variant
- Clinical significance:
- benign
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTG=0./0
(
ALFA)
GTGT=0.4615/2311
(1000Genomes)
- HGVS:
NC_000007.14:g.24744986TG[6], NC_000007.14:g.24744986TG[8], NC_000007.14:g.24744986TG[9], NC_000007.14:g.24744986TG[10], NC_000007.14:g.24744986TG[11], NC_000007.14:g.24744986TG[12], NC_000007.14:g.24744986TG[13], NC_000007.14:g.24744986TG[14], NC_000007.14:g.24744986TG[15], NC_000007.14:g.24744986TG[16], NC_000007.14:g.24744986TG[17], NC_000007.14:g.24744986TG[18], NC_000007.14:g.24744986TG[19], NC_000007.14:g.24744986TG[20], NC_000007.14:g.24744986TG[21], NC_000007.14:g.24744986TG[22], NC_000007.14:g.24744986TG[23], NC_000007.14:g.24744986TG[24], NC_000007.14:g.24744986TG[26], NC_000007.14:g.24744986TG[27], NC_000007.14:g.24744986TG[28], NC_000007.14:g.24744986TG[29], NC_000007.14:g.24744986TG[30], NC_000007.14:g.24744986TG[31], NC_000007.14:g.24744986TG[32], NC_000007.14:g.24744986TG[33], NC_000007.14:g.24744986TG[34], NC_000007.13:g.24784605TG[6], NC_000007.13:g.24784605TG[8], NC_000007.13:g.24784605TG[9], NC_000007.13:g.24784605TG[10], NC_000007.13:g.24784605TG[11], NC_000007.13:g.24784605TG[12], NC_000007.13:g.24784605TG[13], NC_000007.13:g.24784605TG[14], NC_000007.13:g.24784605TG[15], NC_000007.13:g.24784605TG[16], NC_000007.13:g.24784605TG[17], NC_000007.13:g.24784605TG[18], NC_000007.13:g.24784605TG[19], NC_000007.13:g.24784605TG[20], NC_000007.13:g.24784605TG[21], NC_000007.13:g.24784605TG[22], NC_000007.13:g.24784605TG[23], NC_000007.13:g.24784605TG[24], NC_000007.13:g.24784605TG[26], NC_000007.13:g.24784605TG[27], NC_000007.13:g.24784605TG[28], NC_000007.13:g.24784605TG[29], NC_000007.13:g.24784605TG[30], NC_000007.13:g.24784605TG[31], NC_000007.13:g.24784605TG[32], NC_000007.13:g.24784605TG[33], NC_000007.13:g.24784605TG[34], NG_011593.1:g.17987AC[6], NG_011593.1:g.17987AC[8], NG_011593.1:g.17987AC[9], NG_011593.1:g.17987AC[10], NG_011593.1:g.17987AC[11], NG_011593.1:g.17987AC[12], NG_011593.1:g.17987AC[13], NG_011593.1:g.17987AC[14], NG_011593.1:g.17987AC[15], NG_011593.1:g.17987AC[16], NG_011593.1:g.17987AC[17], NG_011593.1:g.17987AC[18], NG_011593.1:g.17987AC[19], NG_011593.1:g.17987AC[20], NG_011593.1:g.17987AC[21], NG_011593.1:g.17987AC[22], NG_011593.1:g.17987AC[23], NG_011593.1:g.17987AC[24], NG_011593.1:g.17987AC[26], NG_011593.1:g.17987AC[27], NG_011593.1:g.17987AC[28], NG_011593.1:g.17987AC[29], NG_011593.1:g.17987AC[30], NG_011593.1:g.17987AC[31], NG_011593.1:g.17987AC[32], NG_011593.1:g.17987AC[33], NG_011593.1:g.17987AC[34]
15.
rs1491114145 has merged into rs1366320411 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:24748175
(GRCh38)
7:24787794
(GRCh37)
- Canonical SPDI:
- NC_000007.14:24748168:TTTTTTTTT:TTTTTT,NC_000007.14:24748168:TTTTTTTTT:TTTTTTT,NC_000007.14:24748168:TTTTTTTTT:TTTTTTTT,NC_000007.14:24748168:TTTTTTTTT:TTTTTTTTTT,NC_000007.14:24748168:TTTTTTTTT:TTTTTTTTTTT,NC_000007.14:24748168:TTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:24748168:TTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:24748168:TTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:24748168:TTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:24748168:TTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:24748168:TTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:24748168:TTTTTTTTT:TTTTTTTTTTTTTTTTTT
- Gene:
- GSDME (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.24748175_24748177del, NC_000007.14:g.24748176_24748177del, NC_000007.14:g.24748177del, NC_000007.14:g.24748177dup, NC_000007.14:g.24748176_24748177dup, NC_000007.14:g.24748175_24748177dup, NC_000007.14:g.24748174_24748177dup, NC_000007.14:g.24748173_24748177dup, NC_000007.14:g.24748172_24748177dup, NC_000007.14:g.24748171_24748177dup, NC_000007.14:g.24748170_24748177dup, NC_000007.14:g.24748169_24748177dup, NC_000007.13:g.24787794_24787796del, NC_000007.13:g.24787795_24787796del, NC_000007.13:g.24787796del, NC_000007.13:g.24787796dup, NC_000007.13:g.24787795_24787796dup, NC_000007.13:g.24787794_24787796dup, NC_000007.13:g.24787793_24787796dup, NC_000007.13:g.24787792_24787796dup, NC_000007.13:g.24787791_24787796dup, NC_000007.13:g.24787790_24787796dup, NC_000007.13:g.24787789_24787796dup, NC_000007.13:g.24787788_24787796dup, NG_011593.1:g.14850_14852del, NG_011593.1:g.14851_14852del, NG_011593.1:g.14852del, NG_011593.1:g.14852dup, NG_011593.1:g.14851_14852dup, NG_011593.1:g.14850_14852dup, NG_011593.1:g.14849_14852dup, NG_011593.1:g.14848_14852dup, NG_011593.1:g.14847_14852dup, NG_011593.1:g.14846_14852dup, NG_011593.1:g.14845_14852dup, NG_011593.1:g.14844_14852dup
16.
rs1491097067 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TTC
[Show Flanks]
- Chromosome:
- 7:24697673
(GRCh38)
7:24737293
(GRCh37)
- Canonical SPDI:
- NC_000007.14:24697673:TTC:TTCTTC
- Validated:
- by frequency,by alfa
- MAF:
TTCTTC=0./0
(
ALFA)
TTC=0.000008/2
(TOPMED)
- HGVS:
17.
rs1491021717 has merged into rs141820646 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:24724183
(GRCh38)
7:24763802
(GRCh37)
- Canonical SPDI:
- NC_000007.14:24724174:AAAAAAAAAAAAAA:AAAAAAAA,NC_000007.14:24724174:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:24724174:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:24724174:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:24724174:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:24724174:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:24724174:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:24724174:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:24724174:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:24724174:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:24724174:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- GSDME (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
AA=0.163161/605
(TWINSUK)
AA=0.167099/644
(ALSPAC)
AA=0.244209/1223
(1000Genomes)
- HGVS:
NC_000007.14:g.24724183_24724188del, NC_000007.14:g.24724184_24724188del, NC_000007.14:g.24724185_24724188del, NC_000007.14:g.24724186_24724188del, NC_000007.14:g.24724187_24724188del, NC_000007.14:g.24724188del, NC_000007.14:g.24724188dup, NC_000007.14:g.24724187_24724188dup, NC_000007.14:g.24724186_24724188dup, NC_000007.14:g.24724185_24724188dup, NC_000007.14:g.24724179_24724188dup, NC_000007.13:g.24763802_24763807del, NC_000007.13:g.24763803_24763807del, NC_000007.13:g.24763804_24763807del, NC_000007.13:g.24763805_24763807del, NC_000007.13:g.24763806_24763807del, NC_000007.13:g.24763807del, NC_000007.13:g.24763807dup, NC_000007.13:g.24763806_24763807dup, NC_000007.13:g.24763805_24763807dup, NC_000007.13:g.24763804_24763807dup, NC_000007.13:g.24763798_24763807dup, NG_011593.1:g.38841_38846del, NG_011593.1:g.38842_38846del, NG_011593.1:g.38843_38846del, NG_011593.1:g.38844_38846del, NG_011593.1:g.38845_38846del, NG_011593.1:g.38846del, NG_011593.1:g.38846dup, NG_011593.1:g.38845_38846dup, NG_011593.1:g.38844_38846dup, NG_011593.1:g.38843_38846dup, NG_011593.1:g.38837_38846dup
18.
rs1490980295 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CAAA>-
[Show Flanks]
- Chromosome:
- 7:24753504
(GRCh38)
7:24793123
(GRCh37)
- Canonical SPDI:
- NC_000007.14:24753496:AAACAAACAAA:AAACAAA
- Gene:
- GSDME (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAACAAA=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
-=0.000057/8
(GnomAD)
- HGVS:
19.
rs1490941312 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:24696754
(GRCh38)
7:24736373
(GRCh37)
- Canonical SPDI:
- NC_000007.14:24696753:A:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000016/2
(GnomAD)
- HGVS:
20.
rs1490921433 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:24703493
(GRCh38)
7:24743112
(GRCh37)
- Canonical SPDI:
- NC_000007.14:24703492:C:T
- Gene:
- GSDME (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: