Links from Gene
Items: 1 to 20 of 10398
1.
rs1491540218 has merged into rs55700532 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:155778150
(GRCh38)
3:155495939
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155778141:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- C3orf33 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.155778150_155778163del, NC_000003.12:g.155778151_155778163del, NC_000003.12:g.155778152_155778163del, NC_000003.12:g.155778153_155778163del, NC_000003.12:g.155778154_155778163del, NC_000003.12:g.155778155_155778163del, NC_000003.12:g.155778156_155778163del, NC_000003.12:g.155778157_155778163del, NC_000003.12:g.155778158_155778163del, NC_000003.12:g.155778159_155778163del, NC_000003.12:g.155778160_155778163del, NC_000003.12:g.155778161_155778163del, NC_000003.12:g.155778162_155778163del, NC_000003.12:g.155778163del, NC_000003.12:g.155778163dup, NC_000003.12:g.155778162_155778163dup, NC_000003.12:g.155778161_155778163dup, NC_000003.12:g.155778160_155778163dup, NC_000003.12:g.155778159_155778163dup, NC_000003.12:g.155778158_155778163dup, NC_000003.12:g.155778157_155778163dup, NC_000003.12:g.155778156_155778163dup, NC_000003.12:g.155778155_155778163dup, NC_000003.12:g.155778154_155778163dup, NC_000003.12:g.155778153_155778163dup, NC_000003.12:g.155778152_155778163dup, NC_000003.12:g.155778151_155778163dup, NC_000003.12:g.155778144_155778163dup, NC_000003.12:g.155778163_155778164insAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.155778163_155778164insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.155778163_155778164insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.155778163_155778164insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.155778163_155778164insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.155495939_155495952del, NC_000003.11:g.155495940_155495952del, NC_000003.11:g.155495941_155495952del, NC_000003.11:g.155495942_155495952del, NC_000003.11:g.155495943_155495952del, NC_000003.11:g.155495944_155495952del, NC_000003.11:g.155495945_155495952del, NC_000003.11:g.155495946_155495952del, NC_000003.11:g.155495947_155495952del, NC_000003.11:g.155495948_155495952del, NC_000003.11:g.155495949_155495952del, NC_000003.11:g.155495950_155495952del, NC_000003.11:g.155495951_155495952del, NC_000003.11:g.155495952del, NC_000003.11:g.155495952dup, NC_000003.11:g.155495951_155495952dup, NC_000003.11:g.155495950_155495952dup, NC_000003.11:g.155495949_155495952dup, NC_000003.11:g.155495948_155495952dup, NC_000003.11:g.155495947_155495952dup, NC_000003.11:g.155495946_155495952dup, NC_000003.11:g.155495945_155495952dup, NC_000003.11:g.155495944_155495952dup, NC_000003.11:g.155495943_155495952dup, NC_000003.11:g.155495942_155495952dup, NC_000003.11:g.155495941_155495952dup, NC_000003.11:g.155495940_155495952dup, NC_000003.11:g.155495933_155495952dup, NC_000003.11:g.155495952_155495953insAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.155495952_155495953insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.155495952_155495953insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.155495952_155495953insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.155495952_155495953insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
2.
rs1491525630 has merged into rs55878451 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA
[Show Flanks]
- Chromosome:
- 3:155782347
(GRCh38)
3:155500136
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155782338:AAAAAAAAAA:AAAAAAAA,NC_000003.12:155782338:AAAAAAAAAA:AAAAAAAAA,NC_000003.12:155782338:AAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:155782338:AAAAAAAAAA:AAAAAAAAAAAA
- Gene:
- C3orf33 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.2721/1246
(1000Genomes)
-=0.4201/1619
(ALSPAC)
-=0.4221/1565
(TWINSUK)
-=0.4379/1910
(Estonian)
- HGVS:
4.
rs1491496796 has merged into rs62815064 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:155774676
(GRCh38)
3:155492465
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155774666:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:155774666:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:155774666:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:155774666:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:155774666:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:155774666:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:155774666:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:155774666:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:155774666:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:155774666:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:155774666:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:155774666:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:155774666:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155774666:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155774666:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155774666:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155774666:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155774666:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155774666:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155774666:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155774666:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155774666:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155774666:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155774666:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:155774666:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- C3orf33 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
T=0.1933/968
(1000Genomes)
- HGVS:
NC_000003.12:g.155774676_155774687del, NC_000003.12:g.155774677_155774687del, NC_000003.12:g.155774678_155774687del, NC_000003.12:g.155774679_155774687del, NC_000003.12:g.155774680_155774687del, NC_000003.12:g.155774681_155774687del, NC_000003.12:g.155774682_155774687del, NC_000003.12:g.155774683_155774687del, NC_000003.12:g.155774684_155774687del, NC_000003.12:g.155774685_155774687del, NC_000003.12:g.155774686_155774687del, NC_000003.12:g.155774687del, NC_000003.12:g.155774687dup, NC_000003.12:g.155774686_155774687dup, NC_000003.12:g.155774685_155774687dup, NC_000003.12:g.155774684_155774687dup, NC_000003.12:g.155774683_155774687dup, NC_000003.12:g.155774682_155774687dup, NC_000003.12:g.155774681_155774687dup, NC_000003.12:g.155774680_155774687dup, NC_000003.12:g.155774687_155774688insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.155774687_155774688insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.155774687_155774688insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.155774687_155774688insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.155774687_155774688insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.155492465_155492476del, NC_000003.11:g.155492466_155492476del, NC_000003.11:g.155492467_155492476del, NC_000003.11:g.155492468_155492476del, NC_000003.11:g.155492469_155492476del, NC_000003.11:g.155492470_155492476del, NC_000003.11:g.155492471_155492476del, NC_000003.11:g.155492472_155492476del, NC_000003.11:g.155492473_155492476del, NC_000003.11:g.155492474_155492476del, NC_000003.11:g.155492475_155492476del, NC_000003.11:g.155492476del, NC_000003.11:g.155492476dup, NC_000003.11:g.155492475_155492476dup, NC_000003.11:g.155492474_155492476dup, NC_000003.11:g.155492473_155492476dup, NC_000003.11:g.155492472_155492476dup, NC_000003.11:g.155492471_155492476dup, NC_000003.11:g.155492470_155492476dup, NC_000003.11:g.155492469_155492476dup, NC_000003.11:g.155492476_155492477insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.155492476_155492477insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.155492476_155492477insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.155492476_155492477insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.155492476_155492477insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
5.
rs1491480583 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GAA
[Show Flanks]
- Chromosome:
- 3:155778142
(GRCh38)
3:155495932
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155778142:AA:AAGAA
- Gene:
- C3orf33 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAGAA=0./0
(
ALFA)
AAG=0.000004/1
(TOPMED)
- HGVS:
6.
rs1491466050 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 3:155772577
(GRCh38)
3:155490367
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155772577::A
- Gene:
- C3orf33 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
A=0.00001/1
(GnomAD)
- HGVS:
8.
rs1491394199 has merged into rs1176317323 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,A,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:155793819
(GRCh38)
3:155511608
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155793809:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:155793809:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:155793809:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:155793809:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:155793809:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:155793809:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:155793809:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:155793809:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155793809:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155793809:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155793809:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155793809:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155793809:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155793809:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155793809:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155793809:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155793809:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155793809:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155793809:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155793809:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155793809:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155793809:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155793809:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155793809:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155793809:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- C3orf33 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.0155/6
(NorthernSweden)
- HGVS:
NC_000003.12:g.155793819_155793827del, NC_000003.12:g.155793820_155793827del, NC_000003.12:g.155793823_155793827del, NC_000003.12:g.155793826_155793827del, NC_000003.12:g.155793827del, NC_000003.12:g.155793827dup, NC_000003.12:g.155793826_155793827dup, NC_000003.12:g.155793825_155793827dup, NC_000003.12:g.155793824_155793827dup, NC_000003.12:g.155793823_155793827dup, NC_000003.12:g.155793822_155793827dup, NC_000003.12:g.155793821_155793827dup, NC_000003.12:g.155793820_155793827dup, NC_000003.12:g.155793819_155793827dup, NC_000003.12:g.155793818_155793827dup, NC_000003.12:g.155793817_155793827dup, NC_000003.12:g.155793816_155793827dup, NC_000003.12:g.155793815_155793827dup, NC_000003.12:g.155793814_155793827dup, NC_000003.12:g.155793813_155793827dup, NC_000003.12:g.155793812_155793827dup, NC_000003.12:g.155793811_155793827dup, NC_000003.12:g.155793810_155793827dup, NC_000003.12:g.155793827_155793828insAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.155793827_155793828insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.155511608_155511616del, NC_000003.11:g.155511609_155511616del, NC_000003.11:g.155511612_155511616del, NC_000003.11:g.155511615_155511616del, NC_000003.11:g.155511616del, NC_000003.11:g.155511616dup, NC_000003.11:g.155511615_155511616dup, NC_000003.11:g.155511614_155511616dup, NC_000003.11:g.155511613_155511616dup, NC_000003.11:g.155511612_155511616dup, NC_000003.11:g.155511611_155511616dup, NC_000003.11:g.155511610_155511616dup, NC_000003.11:g.155511609_155511616dup, NC_000003.11:g.155511608_155511616dup, NC_000003.11:g.155511607_155511616dup, NC_000003.11:g.155511606_155511616dup, NC_000003.11:g.155511605_155511616dup, NC_000003.11:g.155511604_155511616dup, NC_000003.11:g.155511603_155511616dup, NC_000003.11:g.155511602_155511616dup, NC_000003.11:g.155511601_155511616dup, NC_000003.11:g.155511600_155511616dup, NC_000003.11:g.155511599_155511616dup, NC_000003.11:g.155511616_155511617insAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.155511616_155511617insAAAAAAAAAAAAAAAAAAAAAAAAAAA
9.
rs1491379876 has merged into rs10654812 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:155776770
(GRCh38)
3:155494559
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155776759:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- C3orf33 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
AAAAAAAAAAA=0.0463/232
(1000Genomes)
AAAAAAAAAA=0.075/3
(GENOME_DK)
- HGVS:
NC_000003.12:g.155776770_155776784del, NC_000003.12:g.155776772_155776784del, NC_000003.12:g.155776773_155776784del, NC_000003.12:g.155776774_155776784del, NC_000003.12:g.155776775_155776784del, NC_000003.12:g.155776776_155776784del, NC_000003.12:g.155776777_155776784del, NC_000003.12:g.155776778_155776784del, NC_000003.12:g.155776779_155776784del, NC_000003.12:g.155776780_155776784del, NC_000003.12:g.155776781_155776784del, NC_000003.12:g.155776782_155776784del, NC_000003.12:g.155776783_155776784del, NC_000003.12:g.155776784del, NC_000003.12:g.155776784dup, NC_000003.12:g.155776783_155776784dup, NC_000003.12:g.155776782_155776784dup, NC_000003.12:g.155776781_155776784dup, NC_000003.12:g.155776780_155776784dup, NC_000003.12:g.155776779_155776784dup, NC_000003.12:g.155776778_155776784dup, NC_000003.12:g.155776777_155776784dup, NC_000003.12:g.155776776_155776784dup, NC_000003.12:g.155776775_155776784dup, NC_000003.12:g.155776774_155776784dup, NC_000003.12:g.155776773_155776784dup, NC_000003.12:g.155776772_155776784dup, NC_000003.12:g.155776771_155776784dup, NC_000003.12:g.155776770_155776784dup, NC_000003.12:g.155776769_155776784dup, NC_000003.12:g.155776768_155776784dup, NC_000003.12:g.155776767_155776784dup, NC_000003.12:g.155776766_155776784dup, NC_000003.12:g.155776765_155776784dup, NC_000003.12:g.155776764_155776784dup, NC_000003.12:g.155776763_155776784dup, NC_000003.12:g.155776762_155776784dup, NC_000003.12:g.155776761_155776784dup, NC_000003.12:g.155776760_155776784dup, NC_000003.12:g.155776784_155776785insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.155776784_155776785insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.155776784_155776785insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.155776784_155776785insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.155776784_155776785insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.155776784_155776785insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.155776784_155776785insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.155776784_155776785insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.155776784_155776785insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.155776784_155776785insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.155776784_155776785insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.155776784_155776785insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.155776784_155776785insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.155776784_155776785insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.155494559_155494573del, NC_000003.11:g.155494561_155494573del, NC_000003.11:g.155494562_155494573del, NC_000003.11:g.155494563_155494573del, NC_000003.11:g.155494564_155494573del, NC_000003.11:g.155494565_155494573del, NC_000003.11:g.155494566_155494573del, NC_000003.11:g.155494567_155494573del, NC_000003.11:g.155494568_155494573del, NC_000003.11:g.155494569_155494573del, NC_000003.11:g.155494570_155494573del, NC_000003.11:g.155494571_155494573del, NC_000003.11:g.155494572_155494573del, NC_000003.11:g.155494573del, NC_000003.11:g.155494573dup, NC_000003.11:g.155494572_155494573dup, NC_000003.11:g.155494571_155494573dup, NC_000003.11:g.155494570_155494573dup, NC_000003.11:g.155494569_155494573dup, NC_000003.11:g.155494568_155494573dup, NC_000003.11:g.155494567_155494573dup, NC_000003.11:g.155494566_155494573dup, NC_000003.11:g.155494565_155494573dup, NC_000003.11:g.155494564_155494573dup, NC_000003.11:g.155494563_155494573dup, NC_000003.11:g.155494562_155494573dup, NC_000003.11:g.155494561_155494573dup, NC_000003.11:g.155494560_155494573dup, NC_000003.11:g.155494559_155494573dup, NC_000003.11:g.155494558_155494573dup, NC_000003.11:g.155494557_155494573dup, NC_000003.11:g.155494556_155494573dup, NC_000003.11:g.155494555_155494573dup, NC_000003.11:g.155494554_155494573dup, NC_000003.11:g.155494553_155494573dup, NC_000003.11:g.155494552_155494573dup, NC_000003.11:g.155494551_155494573dup, NC_000003.11:g.155494550_155494573dup, NC_000003.11:g.155494549_155494573dup, NC_000003.11:g.155494573_155494574insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.155494573_155494574insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.155494573_155494574insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.155494573_155494574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.155494573_155494574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.155494573_155494574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.155494573_155494574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.155494573_155494574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.155494573_155494574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.155494573_155494574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.155494573_155494574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.155494573_155494574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.155494573_155494574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.155494573_155494574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
10.
rs1491354723 has merged into rs371722784 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT
[Show Flanks]
- Chromosome:
- 3:155772587
(GRCh38)
3:155490376
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155772576:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:155772576:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:155772576:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:155772576:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:155772576:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:155772576:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:155772576:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- C3orf33 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.025/15
(NorthernSweden)
-=0.325/13
(GENOME_DK)
- HGVS:
NC_000003.12:g.155772587_155772591del, NC_000003.12:g.155772588_155772591del, NC_000003.12:g.155772589_155772591del, NC_000003.12:g.155772590_155772591del, NC_000003.12:g.155772591del, NC_000003.12:g.155772591dup, NC_000003.12:g.155772590_155772591dup, NC_000003.11:g.155490376_155490380del, NC_000003.11:g.155490377_155490380del, NC_000003.11:g.155490378_155490380del, NC_000003.11:g.155490379_155490380del, NC_000003.11:g.155490380del, NC_000003.11:g.155490380dup, NC_000003.11:g.155490379_155490380dup
11.
rs1491338040 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 3:155793385
(GRCh38)
3:155511174
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155793383:AGA:A
- Gene:
- C3orf33 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000084/1
(
ALFA)
-=0.000413/51
(GnomAD)
-=0.000824/13
(TOMMO)
- HGVS:
12.
rs1491326996 has merged into rs67931966 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-,GG
[Show Flanks]
- Chromosome:
- 3:155788202
(GRCh38)
3:155505991
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155788201:GG:G,NC_000003.12:155788201:GG:GGG
- Gene:
- C3orf33 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000086/12
(GnomAD)
- HGVS:
13.
rs1491299753 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 3:155774687
(GRCh38)
3:155492477
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155774687:A:AA
- Gene:
- C3orf33 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
A=0.00001/1
(GnomAD)
- HGVS:
14.
rs1491266012 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 3:155790163
(GRCh38)
3:155507952
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155790162:CA:
- Gene:
- C3orf33 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00565/67
(
ALFA)
-=0.00167/44
(TOMMO)
- HGVS:
16.
rs1491201163 has merged into rs35285462 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:155790175
(GRCh38)
3:155507964
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155790163:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:155790163:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:155790163:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:155790163:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:155790163:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:155790163:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:155790163:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:155790163:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:155790163:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155790163:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155790163:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155790163:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155790163:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155790163:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155790163:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:155790163:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- C3orf33 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000003.12:g.155790175_155790189del, NC_000003.12:g.155790177_155790189del, NC_000003.12:g.155790178_155790189del, NC_000003.12:g.155790179_155790189del, NC_000003.12:g.155790180_155790189del, NC_000003.12:g.155790181_155790189del, NC_000003.12:g.155790183_155790189del, NC_000003.12:g.155790184_155790189del, NC_000003.12:g.155790185_155790189del, NC_000003.12:g.155790186_155790189del, NC_000003.12:g.155790187_155790189del, NC_000003.12:g.155790188_155790189del, NC_000003.12:g.155790189del, NC_000003.12:g.155790189dup, NC_000003.12:g.155790188_155790189dup, NC_000003.12:g.155790187_155790189dup, NC_000003.11:g.155507964_155507978del, NC_000003.11:g.155507966_155507978del, NC_000003.11:g.155507967_155507978del, NC_000003.11:g.155507968_155507978del, NC_000003.11:g.155507969_155507978del, NC_000003.11:g.155507970_155507978del, NC_000003.11:g.155507972_155507978del, NC_000003.11:g.155507973_155507978del, NC_000003.11:g.155507974_155507978del, NC_000003.11:g.155507975_155507978del, NC_000003.11:g.155507976_155507978del, NC_000003.11:g.155507977_155507978del, NC_000003.11:g.155507978del, NC_000003.11:g.155507978dup, NC_000003.11:g.155507977_155507978dup, NC_000003.11:g.155507976_155507978dup
20.
rs1491116168 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,ATTGTTTTG,ATTGTTTTGC
[Show Flanks]
- Chromosome:
- 3:155774667
(GRCh38)
3:155492457
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155774667::A,NC_000003.12:155774667::ATTGTTTTG,NC_000003.12:155774667::ATTGTTTTGC
- Gene:
- C3orf33 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ATTGTTTTGC=0./0
(
ALFA)
A=0.00054/3
(GnomAD)
- HGVS: