Links from Gene
Items: 1 to 20 of 1000
1.
rs1491587689 has merged into rs34117326 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CC,CCC
[Show Flanks]
- Chromosome:
- 1:108785564
(GRCh38)
1:109328186
(GRCh37)
- Canonical SPDI:
- NC_000001.11:108785563:CCCC:CCC,NC_000001.11:108785563:CCCC:CCCCC,NC_000001.11:108785563:CCCC:CCCCCC
- Gene:
- STXBP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCC=0./0
(
ALFA)
-=0.039309/132
(1000Genomes)
-=0.168224/36
(Vietnamese)
-=0.205372/3442
(TOMMO)
-=0.370618/98099
(TOPMED)
-=0.373333/224
(NorthernSweden)
-=0.43932/1629
(TWINSUK)
-=0.441884/441
(GoNL)
-=0.448625/1729
(ALSPAC)
-=0.453795/2033
(Estonian)
-=0.475/19
(GENOME_DK)
- HGVS:
2.
rs1491565675 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GA
[Show Flanks]
- Chromosome:
- 1:108771443
(GRCh38)
1:109314066
(GRCh37)
- Canonical SPDI:
- NC_000001.11:108771443:A:AGA
- Gene:
- STXBP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AGA=0./0
(
ALFA)
AG=0.00049/10
(GnomAD)
- HGVS:
3.
rs1491538485 has merged into rs11290690 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,T,TT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:108774649
(GRCh38)
1:109317271
(GRCh37)
- Canonical SPDI:
- NC_000001.11:108774640:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:108774640:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:108774640:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:108774640:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:108774640:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:108774640:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:108774640:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:108774640:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:108774640:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:108774640:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:108774640:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108774640:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108774640:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108774640:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108774640:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108774640:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108774640:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108774640:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- STXBP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
T=0.4818/2413
(1000Genomes)
- HGVS:
NC_000001.11:g.108774649_108774661del, NC_000001.11:g.108774650_108774661del, NC_000001.11:g.108774651_108774661del, NC_000001.11:g.108774654_108774661del, NC_000001.11:g.108774656_108774661del, NC_000001.11:g.108774657_108774661del, NC_000001.11:g.108774658_108774661del, NC_000001.11:g.108774659_108774661del, NC_000001.11:g.108774660_108774661del, NC_000001.11:g.108774661del, NC_000001.11:g.108774661dup, NC_000001.11:g.108774660_108774661dup, NC_000001.11:g.108774658_108774661dup, NC_000001.11:g.108774656_108774661dup, NC_000001.11:g.108774641_108774661T[27]CTTT[2]T[27], NC_000001.11:g.108774654_108774661dup, NC_000001.11:g.108774652_108774661dup, NC_000001.11:g.108774661_108774662insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.109317271_109317283del, NC_000001.10:g.109317272_109317283del, NC_000001.10:g.109317273_109317283del, NC_000001.10:g.109317276_109317283del, NC_000001.10:g.109317278_109317283del, NC_000001.10:g.109317279_109317283del, NC_000001.10:g.109317280_109317283del, NC_000001.10:g.109317281_109317283del, NC_000001.10:g.109317282_109317283del, NC_000001.10:g.109317283del, NC_000001.10:g.109317283dup, NC_000001.10:g.109317282_109317283dup, NC_000001.10:g.109317280_109317283dup, NC_000001.10:g.109317278_109317283dup, NC_000001.10:g.109317263_109317283T[27]CTTT[2]T[27], NC_000001.10:g.109317276_109317283dup, NC_000001.10:g.109317274_109317283dup, NC_000001.10:g.109317283_109317284insTTTTTTTTTTTTTTTTTTTTTTTTT
4.
rs1491535802 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 1:108771513
(GRCh38)
1:109314135
(GRCh37)
- Canonical SPDI:
- NC_000001.11:108771511:AAA:A
- Gene:
- STXBP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.00051/6
(
ALFA)
-=0.00005/4
(GnomAD)
- HGVS:
8.
rs1491496486 has merged into rs1164809739 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATA>-,TA,TATATA
[Show Flanks]
- Chromosome:
- 1:108771808
(GRCh38)
1:109314430
(GRCh37)
- Canonical SPDI:
- NC_000001.11:108771804:ATATATA:ATA,NC_000001.11:108771804:ATATATA:ATATA,NC_000001.11:108771804:ATATATA:ATATATATA
- Gene:
- STXBP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATA=0./0
(
ALFA)
-=0.00015/5
(GnomAD)
-=0.00256/41
(TOMMO)
- HGVS:
10.
rs1491445869 has merged into rs201346701 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:108807268
(GRCh38)
1:109349890
(GRCh37)
- Canonical SPDI:
- NC_000001.11:108807257:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:108807257:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:108807257:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:108807257:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:108807257:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:108807257:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:108807257:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:108807257:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:108807257:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:108807257:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:108807257:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:108807257:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:108807257:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:108807257:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:108807257:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:108807257:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:108807257:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:108807257:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:108807257:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:108807257:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:108807257:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:108807257:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:108807257:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:108807257:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:108807257:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- STXBP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
AAAAAAAAAAAAA=0./0
(GENOME_DK)
AAAAAAAAAAAAA=0.1851/927
(1000Genomes)
- HGVS:
NC_000001.11:g.108807268_108807281del, NC_000001.11:g.108807269_108807281del, NC_000001.11:g.108807270_108807281del, NC_000001.11:g.108807271_108807281del, NC_000001.11:g.108807272_108807281del, NC_000001.11:g.108807273_108807281del, NC_000001.11:g.108807274_108807281del, NC_000001.11:g.108807275_108807281del, NC_000001.11:g.108807277_108807281del, NC_000001.11:g.108807278_108807281del, NC_000001.11:g.108807279_108807281del, NC_000001.11:g.108807280_108807281del, NC_000001.11:g.108807281del, NC_000001.11:g.108807281dup, NC_000001.11:g.108807280_108807281dup, NC_000001.11:g.108807279_108807281dup, NC_000001.11:g.108807278_108807281dup, NC_000001.11:g.108807277_108807281dup, NC_000001.11:g.108807276_108807281dup, NC_000001.11:g.108807275_108807281dup, NC_000001.11:g.108807274_108807281dup, NC_000001.11:g.108807273_108807281dup, NC_000001.11:g.108807281_108807282insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.108807281_108807282insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.108807281_108807282insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.109349890_109349903del, NC_000001.10:g.109349891_109349903del, NC_000001.10:g.109349892_109349903del, NC_000001.10:g.109349893_109349903del, NC_000001.10:g.109349894_109349903del, NC_000001.10:g.109349895_109349903del, NC_000001.10:g.109349896_109349903del, NC_000001.10:g.109349897_109349903del, NC_000001.10:g.109349899_109349903del, NC_000001.10:g.109349900_109349903del, NC_000001.10:g.109349901_109349903del, NC_000001.10:g.109349902_109349903del, NC_000001.10:g.109349903del, NC_000001.10:g.109349903dup, NC_000001.10:g.109349902_109349903dup, NC_000001.10:g.109349901_109349903dup, NC_000001.10:g.109349900_109349903dup, NC_000001.10:g.109349899_109349903dup, NC_000001.10:g.109349898_109349903dup, NC_000001.10:g.109349897_109349903dup, NC_000001.10:g.109349896_109349903dup, NC_000001.10:g.109349895_109349903dup, NC_000001.10:g.109349903_109349904insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.109349903_109349904insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.109349903_109349904insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
11.
rs1491419965 has merged into rs745652259 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:108793169
(GRCh38)
1:109335791
(GRCh37)
- Canonical SPDI:
- NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- STXBP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.000034/9
(TOPMED)
-=0.05/2
(GENOME_DK)
-=0.096269/1484
(TOMMO)
- HGVS:
NC_000001.11:g.108793169_108793183del, NC_000001.11:g.108793170_108793183del, NC_000001.11:g.108793171_108793183del, NC_000001.11:g.108793172_108793183del, NC_000001.11:g.108793173_108793183del, NC_000001.11:g.108793174_108793183del, NC_000001.11:g.108793175_108793183del, NC_000001.11:g.108793176_108793183del, NC_000001.11:g.108793178_108793183del, NC_000001.11:g.108793179_108793183del, NC_000001.11:g.108793180_108793183del, NC_000001.11:g.108793181_108793183del, NC_000001.11:g.108793182_108793183del, NC_000001.11:g.108793183del, NC_000001.11:g.108793183dup, NC_000001.11:g.108793182_108793183dup, NC_000001.11:g.108793181_108793183dup, NC_000001.11:g.108793180_108793183dup, NC_000001.11:g.108793179_108793183dup, NC_000001.11:g.108793178_108793183dup, NC_000001.11:g.108793173_108793183dup, NC_000001.11:g.108793172_108793183dup, NC_000001.11:g.108793171_108793183dup, NC_000001.11:g.108793170_108793183dup, NC_000001.11:g.108793169_108793183dup, NC_000001.11:g.108793183_108793184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.108793183_108793184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.109335791_109335805del, NC_000001.10:g.109335792_109335805del, NC_000001.10:g.109335793_109335805del, NC_000001.10:g.109335794_109335805del, NC_000001.10:g.109335795_109335805del, NC_000001.10:g.109335796_109335805del, NC_000001.10:g.109335797_109335805del, NC_000001.10:g.109335798_109335805del, NC_000001.10:g.109335800_109335805del, NC_000001.10:g.109335801_109335805del, NC_000001.10:g.109335802_109335805del, NC_000001.10:g.109335803_109335805del, NC_000001.10:g.109335804_109335805del, NC_000001.10:g.109335805del, NC_000001.10:g.109335805dup, NC_000001.10:g.109335804_109335805dup, NC_000001.10:g.109335803_109335805dup, NC_000001.10:g.109335802_109335805dup, NC_000001.10:g.109335801_109335805dup, NC_000001.10:g.109335800_109335805dup, NC_000001.10:g.109335795_109335805dup, NC_000001.10:g.109335794_109335805dup, NC_000001.10:g.109335793_109335805dup, NC_000001.10:g.109335792_109335805dup, NC_000001.10:g.109335791_109335805dup, NC_000001.10:g.109335805_109335806insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.109335805_109335806insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
13.
rs1491416963 has merged into rs3051072 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATA>-,TATA,TATATATA,TATATATATA
[Show Flanks]
- Chromosome:
- 1:108753412
(GRCh38)
1:109296034
(GRCh37)
- Canonical SPDI:
- NC_000001.11:108753404:ATATATATATATA:ATATATA,NC_000001.11:108753404:ATATATATATATA:ATATATATATA,NC_000001.11:108753404:ATATATATATATA:ATATATATATATATA,NC_000001.11:108753404:ATATATATATATA:ATATATATATATATATA
- Gene:
- STXBP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATA=0./0
(
ALFA)
-=0.000026/7
(TOPMED)
AT=0.168224/36
(Vietnamese)
AT=0.376667/226
(NorthernSweden)
AT=0.425/17
(GENOME_DK)
AT=0.438878/438
(GoNL)
AT=0.452413/2025
(Estonian)
- HGVS:
14.
rs1491409096 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TATATAA
[Show Flanks]
- Chromosome:
- 1:108771628
(GRCh38)
1:109314251
(GRCh37)
- Canonical SPDI:
- NC_000001.11:108771628:ATATATAA:ATATATAATATATAA
- Gene:
- STXBP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ATATATAATATATAA=0./0
(
ALFA)
- HGVS:
15.
rs1491405361 has merged into rs377283569 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAT>-,AT,ATATAATATATAAATATATATGATATATATCTATATATATAT,ATATAT,ATATATAATATATAAATATATATGATATATATAT,ATATATAATATATAAATATATATGATATATATATATATATAT,ATATATAATATATAAATATATATGATATATATCTATATATATAATATATAAATATATATGATATATATCTATATATATAT,ATATATAATATATAAATATATATGATATATATCTATATATATATAATATATAAATATATATGATATATATCTATATATATAT,ATATATAT
[Show Flanks]
- Chromosome:
- 1:108771448
(GRCh38)
1:109314070
(GRCh37)
- Canonical SPDI:
- NC_000001.11:108771442:TATATATAT:TATAT,NC_000001.11:108771442:TATATATAT:TATATAT,NC_000001.11:108771442:TATATATAT:TATATATATAATATATAAATATATATGATATATATCTATATATATAT,NC_000001.11:108771442:TATATATAT:TATATATATAT,NC_000001.11:108771442:TATATATAT:TATATATATATAATATATAAATATATATGATATATATAT,NC_000001.11:108771442:TATATATAT:TATATATATATAATATATAAATATATATGATATATATATATATATAT,NC_000001.11:108771442:TATATATAT:TATATATATATAATATATAAATATATATGATATATATCTATATATATAATATATAAATATATATGATATATATCTATATATATAT,NC_000001.11:108771442:TATATATAT:TATATATATATAATATATAAATATATATGATATATATCTATATATATATAATATATAAATATATATGATATATATCTATATATATAT,NC_000001.11:108771442:TATATATAT:TATATATATATAT
- Gene:
- STXBP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATAT=0./0
(
ALFA)
TA=0.00108/30
(TOMMO)
- HGVS:
NC_000001.11:g.108771444AT[2], NC_000001.11:g.108771444AT[3], NC_000001.11:g.108771443_108771451TA[5]AT[3]AAATATATATGATATATATCTATATATATAT[1], NC_000001.11:g.108771444AT[5], NC_000001.11:g.108771443_108771451TA[6]AT[3]AAATATATATGATATATATAT[1], NC_000001.11:g.108771443_108771451TA[6]AT[3]AAATATATATGATATATATATATATATAT[1], NC_000001.11:g.108771443_108771451TA[6]ATATATAAATATATATGATATATATCTATATATATA[2]T[1], NC_000001.11:g.108771443_108771451TATATATATATAATATATAAATATATATGATATATATC[2]TA[5]T[1], NC_000001.11:g.108771444AT[6], NC_000001.10:g.109314066AT[2], NC_000001.10:g.109314066AT[3], NC_000001.10:g.109314065_109314073TA[5]AT[3]AAATATATATGATATATATCTATATATATAT[1], NC_000001.10:g.109314066AT[5], NC_000001.10:g.109314065_109314073TA[6]AT[3]AAATATATATGATATATATAT[1], NC_000001.10:g.109314065_109314073TA[6]AT[3]AAATATATATGATATATATATATATATAT[1], NC_000001.10:g.109314065_109314073TA[6]ATATATAAATATATATGATATATATCTATATATATA[2]T[1], NC_000001.10:g.109314065_109314073TATATATATATAATATATAAATATATATGATATATATC[2]TA[5]T[1], NC_000001.10:g.109314066AT[6]
17.
rs1491344482 has merged into rs745652259 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:108793169
(GRCh38)
1:109335791
(GRCh37)
- Canonical SPDI:
- NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108793157:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- STXBP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.000034/9
(TOPMED)
-=0.05/2
(GENOME_DK)
-=0.096269/1484
(TOMMO)
- HGVS:
NC_000001.11:g.108793169_108793183del, NC_000001.11:g.108793170_108793183del, NC_000001.11:g.108793171_108793183del, NC_000001.11:g.108793172_108793183del, NC_000001.11:g.108793173_108793183del, NC_000001.11:g.108793174_108793183del, NC_000001.11:g.108793175_108793183del, NC_000001.11:g.108793176_108793183del, NC_000001.11:g.108793178_108793183del, NC_000001.11:g.108793179_108793183del, NC_000001.11:g.108793180_108793183del, NC_000001.11:g.108793181_108793183del, NC_000001.11:g.108793182_108793183del, NC_000001.11:g.108793183del, NC_000001.11:g.108793183dup, NC_000001.11:g.108793182_108793183dup, NC_000001.11:g.108793181_108793183dup, NC_000001.11:g.108793180_108793183dup, NC_000001.11:g.108793179_108793183dup, NC_000001.11:g.108793178_108793183dup, NC_000001.11:g.108793173_108793183dup, NC_000001.11:g.108793172_108793183dup, NC_000001.11:g.108793171_108793183dup, NC_000001.11:g.108793170_108793183dup, NC_000001.11:g.108793169_108793183dup, NC_000001.11:g.108793183_108793184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.108793183_108793184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.109335791_109335805del, NC_000001.10:g.109335792_109335805del, NC_000001.10:g.109335793_109335805del, NC_000001.10:g.109335794_109335805del, NC_000001.10:g.109335795_109335805del, NC_000001.10:g.109335796_109335805del, NC_000001.10:g.109335797_109335805del, NC_000001.10:g.109335798_109335805del, NC_000001.10:g.109335800_109335805del, NC_000001.10:g.109335801_109335805del, NC_000001.10:g.109335802_109335805del, NC_000001.10:g.109335803_109335805del, NC_000001.10:g.109335804_109335805del, NC_000001.10:g.109335805del, NC_000001.10:g.109335805dup, NC_000001.10:g.109335804_109335805dup, NC_000001.10:g.109335803_109335805dup, NC_000001.10:g.109335802_109335805dup, NC_000001.10:g.109335801_109335805dup, NC_000001.10:g.109335800_109335805dup, NC_000001.10:g.109335795_109335805dup, NC_000001.10:g.109335794_109335805dup, NC_000001.10:g.109335793_109335805dup, NC_000001.10:g.109335792_109335805dup, NC_000001.10:g.109335791_109335805dup, NC_000001.10:g.109335805_109335806insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.109335805_109335806insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
20.
rs1491302434 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:108793158
(GRCh38)
1:109335781
(GRCh37)
- Canonical SPDI:
- NC_000001.11:108793158:TTTTTTTT:TTTTTTTTCTTTTTTTT
- Gene:
- STXBP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTCTTTTTTTT=0./0
(
ALFA)
TTTTTTTTC=0.00009/6
(GnomAD)
TTTTTTTTC=0.00045/7
(TOMMO)
- HGVS: