Links from Gene
Items: 1 to 20 of 1000
1.
rs1491573045 has merged into rs1217864015 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 6:25744999
(GRCh38)
6:25745227
(GRCh37)
- Canonical SPDI:
- NC_000006.12:25744998:TTTTTTTTTT:TTTTTTTTT,NC_000006.12:25744998:TTTTTTTTTT:TTTTTTTTTTT
- Gene:
- SLC17A1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.000178/47
(TOPMED)
- HGVS:
2.
rs1491365312 has merged into rs749792003 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,A,AA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:25741426
(GRCh38)
6:25741654
(GRCh37)
- Canonical SPDI:
- NC_000006.12:25741415:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:25741415:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:25741415:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:25741415:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:25741415:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:25741415:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:25741415:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:25741415:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:25741415:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:25741415:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:25741415:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:25741415:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:25741415:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SLC17A1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAAA=0./0
(
ALFA)
AAAAAAAAA=0./0
(GENOME_DK)
- HGVS:
NC_000006.12:g.25741426_25741436del, NC_000006.12:g.25741427_25741436del, NC_000006.12:g.25741428_25741436del, NC_000006.12:g.25741433_25741436del, NC_000006.12:g.25741434_25741436del, NC_000006.12:g.25741435_25741436del, NC_000006.12:g.25741436del, NC_000006.12:g.25741436dup, NC_000006.12:g.25741435_25741436dup, NC_000006.12:g.25741434_25741436dup, NC_000006.12:g.25741433_25741436dup, NC_000006.12:g.25741431_25741436dup, NC_000006.12:g.25741430_25741436dup, NC_000006.11:g.25741654_25741664del, NC_000006.11:g.25741655_25741664del, NC_000006.11:g.25741656_25741664del, NC_000006.11:g.25741661_25741664del, NC_000006.11:g.25741662_25741664del, NC_000006.11:g.25741663_25741664del, NC_000006.11:g.25741664del, NC_000006.11:g.25741664dup, NC_000006.11:g.25741663_25741664dup, NC_000006.11:g.25741662_25741664dup, NC_000006.11:g.25741661_25741664dup, NC_000006.11:g.25741659_25741664dup, NC_000006.11:g.25741658_25741664dup
3.
rs1491316897 has merged into rs34669145 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:25802947
(GRCh38)
6:25803175
(GRCh37)
- Canonical SPDI:
- NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:25802935:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SLC17A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.175/7
(GENOME_DK)
- HGVS:
NC_000006.12:g.25802947_25802964del, NC_000006.12:g.25802948_25802964del, NC_000006.12:g.25802949_25802964del, NC_000006.12:g.25802950_25802964del, NC_000006.12:g.25802951_25802964del, NC_000006.12:g.25802952_25802964del, NC_000006.12:g.25802953_25802964del, NC_000006.12:g.25802954_25802964del, NC_000006.12:g.25802955_25802964del, NC_000006.12:g.25802956_25802964del, NC_000006.12:g.25802957_25802964del, NC_000006.12:g.25802958_25802964del, NC_000006.12:g.25802959_25802964del, NC_000006.12:g.25802960_25802964del, NC_000006.12:g.25802961_25802964del, NC_000006.12:g.25802962_25802964del, NC_000006.12:g.25802963_25802964del, NC_000006.12:g.25802964del, NC_000006.12:g.25802964dup, NC_000006.12:g.25802963_25802964dup, NC_000006.12:g.25802962_25802964dup, NC_000006.12:g.25802961_25802964dup, NC_000006.12:g.25802960_25802964dup, NC_000006.12:g.25802936_25802964T[34]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000006.12:g.25802959_25802964dup, NC_000006.12:g.25802958_25802964dup, NC_000006.12:g.25802957_25802964dup, NC_000006.12:g.25802956_25802964dup, NC_000006.12:g.25802955_25802964dup, NC_000006.12:g.25802954_25802964dup, NC_000006.12:g.25802953_25802964dup, NC_000006.12:g.25802952_25802964dup, NC_000006.12:g.25802951_25802964dup, NC_000006.12:g.25802950_25802964dup, NC_000006.12:g.25802936_25802964T[44]GT[2]T[40], NC_000006.12:g.25802949_25802964dup, NC_000006.12:g.25802948_25802964dup, NC_000006.12:g.25802947_25802964dup, NC_000006.12:g.25802946_25802964dup, NC_000006.12:g.25802945_25802964dup, NC_000006.12:g.25802944_25802964dup, NC_000006.12:g.25802943_25802964dup, NC_000006.12:g.25802942_25802964dup, NC_000006.12:g.25802941_25802964dup, NC_000006.12:g.25802940_25802964dup, NC_000006.12:g.25802938_25802964dup, NC_000006.12:g.25802937_25802964dup, NC_000006.12:g.25802964_25802965insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.25803175_25803192del, NC_000006.11:g.25803176_25803192del, NC_000006.11:g.25803177_25803192del, NC_000006.11:g.25803178_25803192del, NC_000006.11:g.25803179_25803192del, NC_000006.11:g.25803180_25803192del, NC_000006.11:g.25803181_25803192del, NC_000006.11:g.25803182_25803192del, NC_000006.11:g.25803183_25803192del, NC_000006.11:g.25803184_25803192del, NC_000006.11:g.25803185_25803192del, NC_000006.11:g.25803186_25803192del, NC_000006.11:g.25803187_25803192del, NC_000006.11:g.25803188_25803192del, NC_000006.11:g.25803189_25803192del, NC_000006.11:g.25803190_25803192del, NC_000006.11:g.25803191_25803192del, NC_000006.11:g.25803192del, NC_000006.11:g.25803192dup, NC_000006.11:g.25803191_25803192dup, NC_000006.11:g.25803190_25803192dup, NC_000006.11:g.25803189_25803192dup, NC_000006.11:g.25803188_25803192dup, NC_000006.11:g.25803164_25803192T[34]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000006.11:g.25803187_25803192dup, NC_000006.11:g.25803186_25803192dup, NC_000006.11:g.25803185_25803192dup, NC_000006.11:g.25803184_25803192dup, NC_000006.11:g.25803183_25803192dup, NC_000006.11:g.25803182_25803192dup, NC_000006.11:g.25803181_25803192dup, NC_000006.11:g.25803180_25803192dup, NC_000006.11:g.25803179_25803192dup, NC_000006.11:g.25803178_25803192dup, NC_000006.11:g.25803164_25803192T[44]GT[2]T[40], NC_000006.11:g.25803177_25803192dup, NC_000006.11:g.25803176_25803192dup, NC_000006.11:g.25803175_25803192dup, NC_000006.11:g.25803174_25803192dup, NC_000006.11:g.25803173_25803192dup, NC_000006.11:g.25803172_25803192dup, NC_000006.11:g.25803171_25803192dup, NC_000006.11:g.25803170_25803192dup, NC_000006.11:g.25803169_25803192dup, NC_000006.11:g.25803168_25803192dup, NC_000006.11:g.25803166_25803192dup, NC_000006.11:g.25803165_25803192dup, NC_000006.11:g.25803192_25803193insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
5.
rs1491217164 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 6:25741415
(GRCh38)
6:25741643
(GRCh37)
- Canonical SPDI:
- NC_000006.12:25741414:CA:
- Gene:
- SLC17A1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00152/18
(
ALFA)
-=0.0003/20
(GnomAD)
-=0.00061/10
(TOMMO)
- HGVS:
6.
rs1491083385 has merged into rs66832906 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:25771588
(GRCh38)
6:25771816
(GRCh37)
- Canonical SPDI:
- NC_000006.12:25771578:AAAAAAAAAAA:AAAAAAAAA,NC_000006.12:25771578:AAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:25771578:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:25771578:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
- Gene:
- SLC17A1 (Varview), SLC17A4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0.0008/4
(
ALFA)
A=0.115/69
(NorthernSweden)
A=0.1484/572
(ALSPAC)
A=0.1572/583
(TWINSUK)
A=0.175/7
(GENOME_DK)
A=0.2178/1020
(1000Genomes)
- HGVS:
7.
rs1491073613 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 6:25810887
(GRCh38)
6:25811115
(GRCh37)
- Canonical SPDI:
- NC_000006.12:25810886:AT:
- Gene:
- SLC17A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
8.
rs1491042015 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTATGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 6:25733794
(GRCh38)
6:25734023
(GRCh37)
- Canonical SPDI:
- NC_000006.12:25733794:TGTGTGTGTGT:TGTGTGTGTGTGTATGTGTGTGTGT
- Gene:
- SLC17A1 (Varview), H2AC2P (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGTGTGTGTGTGTATGTGTGTGTGT=0.00008/1
(
ALFA)
- HGVS:
9.
rs1491026169 has merged into rs61603783 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,TTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:25727406
(GRCh38)
6:25727634
(GRCh37)
- Canonical SPDI:
- NC_000006.12:25727399:TTTTTTTTTTTTTT:TTTTTT,NC_000006.12:25727399:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:25727399:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:25727399:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:25727399:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:25727399:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:25727399:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:25727399:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:25727399:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SLC17A1 (Varview), H2AC1 (Varview), H2BC1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
T=0.1898/487
(1000Genomes)
- HGVS:
NC_000006.12:g.25727406_25727413del, NC_000006.12:g.25727410_25727413del, NC_000006.12:g.25727412_25727413del, NC_000006.12:g.25727413del, NC_000006.12:g.25727413dup, NC_000006.12:g.25727412_25727413dup, NC_000006.12:g.25727411_25727413dup, NC_000006.12:g.25727410_25727413dup, NC_000006.12:g.25727403_25727413dup, NC_000006.11:g.25727634_25727641del, NC_000006.11:g.25727638_25727641del, NC_000006.11:g.25727640_25727641del, NC_000006.11:g.25727641del, NC_000006.11:g.25727641dup, NC_000006.11:g.25727640_25727641dup, NC_000006.11:g.25727639_25727641dup, NC_000006.11:g.25727638_25727641dup, NC_000006.11:g.25727631_25727641dup
10.
rs1491011591 has merged into rs10681768 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 6:25750661
(GRCh38)
6:25750889
(GRCh37)
- Canonical SPDI:
- NC_000006.12:25750659:AAA:A
- Gene:
- SLC17A1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490973783 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 6:25772245
(GRCh38)
6:25772473
(GRCh37)
- Canonical SPDI:
- NC_000006.12:25772244:T:A
- Gene:
- SLC17A1 (Varview), SLC17A4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
14.
rs1490930842 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:25789729
(GRCh38)
6:25789957
(GRCh37)
- Canonical SPDI:
- NC_000006.12:25789728:A:G
- Gene:
- SLC17A1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,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:
15.
rs1490921364 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:25763405
(GRCh38)
6:25763633
(GRCh37)
- Canonical SPDI:
- NC_000006.12:25763404:A:G
- Gene:
- SLC17A1 (Varview), SLC17A4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490893066 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 6:25801856
(GRCh38)
6:25802084
(GRCh37)
- Canonical SPDI:
- NC_000006.12:25801855:G:A,NC_000006.12:25801855:G:C
- Gene:
- SLC17A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
18.
rs1490881282 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:25820609
(GRCh38)
6:25820837
(GRCh37)
- Canonical SPDI:
- NC_000006.12:25820608:G:A
- Gene:
- SLC17A1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
19.
rs1490874247 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 6:25753700
(GRCh38)
6:25753928
(GRCh37)
- Canonical SPDI:
- NC_000006.12:25753699:G:C
- Gene:
- SLC17A1 (Varview), SLC17A4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS: