Links from Gene
Items: 1 to 20 of 6174
1.
rs1491578757 has merged into rs60673746 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 6:21485976
(GRCh38)
6:21486207
(GRCh37)
- Canonical SPDI:
- NC_000006.12:21485962:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000006.12:21485962:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000006.12:21485962:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000006.12:21485962:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000006.12:21485962:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000006.12:21485962:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:21485962:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:21485962:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:21485962:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:21485962:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:21485962:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000006.12:21485962:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- LINC00581 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTG=0./0
(
ALFA)
- HGVS:
NC_000006.12:g.21485964TG[6], NC_000006.12:g.21485964TG[7], NC_000006.12:g.21485964TG[8], NC_000006.12:g.21485964TG[9], NC_000006.12:g.21485964TG[10], NC_000006.12:g.21485964TG[11], NC_000006.12:g.21485964TG[12], NC_000006.12:g.21485964TG[14], NC_000006.12:g.21485964TG[15], NC_000006.12:g.21485964TG[16], NC_000006.12:g.21485964TG[17], NC_000006.12:g.21485964TG[18], NC_000006.11:g.21486195TG[6], NC_000006.11:g.21486195TG[7], NC_000006.11:g.21486195TG[8], NC_000006.11:g.21486195TG[9], NC_000006.11:g.21486195TG[10], NC_000006.11:g.21486195TG[11], NC_000006.11:g.21486195TG[12], NC_000006.11:g.21486195TG[14], NC_000006.11:g.21486195TG[15], NC_000006.11:g.21486195TG[16], NC_000006.11:g.21486195TG[17], NC_000006.11:g.21486195TG[18]
2.
rs1491558770 has merged into rs55702646 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:21512447
(GRCh38)
6:21512678
(GRCh37)
- Canonical SPDI:
- NC_000006.12:21512434:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:21512434:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:21512434:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:21512434:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:21512434:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:21512434:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:21512434:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:21512434:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:21512434:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:21512434:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:21512434:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:21512434:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:21512434:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:21512434:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:21512434:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:21512434:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:21512434:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:21512434:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:21512434:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:21512434:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:21512434:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:21512434:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:21512434:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:21512434:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:21512434:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:21512434:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC00581 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.003/2
(NorthernSweden)
- HGVS:
NC_000006.12:g.21512447_21512462del, NC_000006.12:g.21512448_21512462del, NC_000006.12:g.21512449_21512462del, NC_000006.12:g.21512450_21512462del, NC_000006.12:g.21512451_21512462del, NC_000006.12:g.21512452_21512462del, NC_000006.12:g.21512453_21512462del, NC_000006.12:g.21512454_21512462del, NC_000006.12:g.21512455_21512462del, NC_000006.12:g.21512457_21512462del, NC_000006.12:g.21512458_21512462del, NC_000006.12:g.21512459_21512462del, NC_000006.12:g.21512460_21512462del, NC_000006.12:g.21512461_21512462del, NC_000006.12:g.21512462del, NC_000006.12:g.21512462dup, NC_000006.12:g.21512461_21512462dup, NC_000006.12:g.21512460_21512462dup, NC_000006.12:g.21512459_21512462dup, NC_000006.12:g.21512458_21512462dup, NC_000006.12:g.21512457_21512462dup, NC_000006.12:g.21512456_21512462dup, NC_000006.12:g.21512455_21512462dup, NC_000006.12:g.21512454_21512462dup, NC_000006.12:g.21512453_21512462dup, NC_000006.12:g.21512462_21512463insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.21512678_21512693del, NC_000006.11:g.21512679_21512693del, NC_000006.11:g.21512680_21512693del, NC_000006.11:g.21512681_21512693del, NC_000006.11:g.21512682_21512693del, NC_000006.11:g.21512683_21512693del, NC_000006.11:g.21512684_21512693del, NC_000006.11:g.21512685_21512693del, NC_000006.11:g.21512686_21512693del, NC_000006.11:g.21512688_21512693del, NC_000006.11:g.21512689_21512693del, NC_000006.11:g.21512690_21512693del, NC_000006.11:g.21512691_21512693del, NC_000006.11:g.21512692_21512693del, NC_000006.11:g.21512693del, NC_000006.11:g.21512693dup, NC_000006.11:g.21512692_21512693dup, NC_000006.11:g.21512691_21512693dup, NC_000006.11:g.21512690_21512693dup, NC_000006.11:g.21512689_21512693dup, NC_000006.11:g.21512688_21512693dup, NC_000006.11:g.21512687_21512693dup, NC_000006.11:g.21512686_21512693dup, NC_000006.11:g.21512685_21512693dup, NC_000006.11:g.21512684_21512693dup, NC_000006.11:g.21512693_21512694insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
3.
rs1491558616 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 6:21499458
(GRCh38)
6:21499690
(GRCh37)
- Canonical SPDI:
- NC_000006.12:21499458:A:AA
- Gene:
- LINC00581 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
A=0.000038/10
(TOPMED)
- HGVS:
4.
rs1491512799 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 6:21485962
(GRCh38)
6:21486193
(GRCh37)
- Canonical SPDI:
- NC_000006.12:21485961:CG:
- Gene:
- LINC00581 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
5.
rs1491433550 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ACACACACCC,ACACACACCCCC,ACACACCC,ACACCC,ACACCCCC,ACCC,ACCCCC
[Show Flanks]
- Chromosome:
- 6:21505484
(GRCh38)
6:21505716
(GRCh37)
- Canonical SPDI:
- NC_000006.12:21505484:C:CACACACACCC,NC_000006.12:21505484:C:CACACACACCCCC,NC_000006.12:21505484:C:CACACACCC,NC_000006.12:21505484:C:CACACCC,NC_000006.12:21505484:C:CACACCCCC,NC_000006.12:21505484:C:CACCC,NC_000006.12:21505484:C:CACCCCC
- Gene:
- LINC00581 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACCCCC=0./0
(
ALFA)
CACACACC=0.00055/1
(Korea1K)
CACC=0.03667/22
(NorthernSweden)
- HGVS:
NC_000006.12:g.21505485CA[4]CCC[1], NC_000006.12:g.21505485CA[4]C[5], NC_000006.12:g.21505485CA[3]CCC[1], NC_000006.12:g.21505485CA[2]CCC[1], NC_000006.12:g.21505485CA[2]C[5], NC_000006.12:g.21505485_21505486insACCC, NC_000006.12:g.21505485_21505486insACCCCC, NC_000006.11:g.21505716CA[4]CCC[1], NC_000006.11:g.21505716CA[4]C[5], NC_000006.11:g.21505716CA[3]CCC[1], NC_000006.11:g.21505716CA[2]CCC[1], NC_000006.11:g.21505716CA[2]C[5], NC_000006.11:g.21505716_21505717insACCC, NC_000006.11:g.21505716_21505717insACCCCC
6.
rs1491382804 has merged into rs61680506 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:21499012
(GRCh38)
6:21499243
(GRCh37)
- Canonical SPDI:
- NC_000006.12:21499000:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:21499000:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:21499000:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:21499000:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:21499000:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:21499000:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:21499000:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:21499000:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:21499000:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:21499000:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:21499000:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:21499000:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC00581 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
AAAA=0.4643/2325
(1000Genomes)
- HGVS:
NC_000006.12:g.21499012_21499022del, NC_000006.12:g.21499014_21499022del, NC_000006.12:g.21499016_21499022del, NC_000006.12:g.21499017_21499022del, NC_000006.12:g.21499018_21499022del, NC_000006.12:g.21499019_21499022del, NC_000006.12:g.21499020_21499022del, NC_000006.12:g.21499021_21499022del, NC_000006.12:g.21499022del, NC_000006.12:g.21499022dup, NC_000006.12:g.21499021_21499022dup, NC_000006.12:g.21499020_21499022dup, NC_000006.11:g.21499243_21499253del, NC_000006.11:g.21499245_21499253del, NC_000006.11:g.21499247_21499253del, NC_000006.11:g.21499248_21499253del, NC_000006.11:g.21499249_21499253del, NC_000006.11:g.21499250_21499253del, NC_000006.11:g.21499251_21499253del, NC_000006.11:g.21499252_21499253del, NC_000006.11:g.21499253del, NC_000006.11:g.21499253dup, NC_000006.11:g.21499252_21499253dup, NC_000006.11:g.21499251_21499253dup
9.
rs1491097635 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 6:21499459
(GRCh38)
6:21499690
(GRCh37)
- Canonical SPDI:
- NC_000006.12:21499457:TAT:T
- Gene:
- LINC00581 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
10.
rs1491077962 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGCG
[Show Flanks]
- Chromosome:
- 6:21485988
(GRCh38)
6:21486220
(GRCh37)
- Canonical SPDI:
- NC_000006.12:21485988:G:GTGCG
- Gene:
- LINC00581 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
GTGCG=0./0
(
ALFA)
GTGC=0.000007/1
(GnomAD)
- HGVS:
11.
rs1491073232 has merged into rs55904316 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 6:21505460
(GRCh38)
6:21505691
(GRCh37)
- Canonical SPDI:
- NC_000006.12:21505442:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACAC,NC_000006.12:21505442:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACAC,NC_000006.12:21505442:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000006.12:21505442:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000006.12:21505442:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000006.12:21505442:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000006.12:21505442:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000006.12:21505442:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000006.12:21505442:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC,NC_000006.12:21505442:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000006.12:21505442:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC,NC_000006.12:21505442:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC,NC_000006.12:21505442:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:21505442:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:21505442:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:21505442:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:21505442:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:21505442:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:21505442:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:21505442:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:21505442:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000006.12:21505442:CACACACACACACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- LINC00581 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACACACAC=0./0
(
ALFA)
- HGVS:
NC_000006.12:g.21505444AC[8], NC_000006.12:g.21505444AC[9], NC_000006.12:g.21505444AC[10], NC_000006.12:g.21505444AC[11], NC_000006.12:g.21505444AC[12], NC_000006.12:g.21505444AC[13], NC_000006.12:g.21505444AC[14], NC_000006.12:g.21505444AC[15], NC_000006.12:g.21505444AC[16], NC_000006.12:g.21505444AC[17], NC_000006.12:g.21505444AC[18], NC_000006.12:g.21505444AC[19], NC_000006.12:g.21505444AC[20], NC_000006.12:g.21505444AC[22], NC_000006.12:g.21505444AC[23], NC_000006.12:g.21505444AC[24], NC_000006.12:g.21505444AC[25], NC_000006.12:g.21505444AC[26], NC_000006.12:g.21505444AC[27], NC_000006.12:g.21505444AC[28], NC_000006.12:g.21505444AC[29], NC_000006.12:g.21505444AC[32], NC_000006.11:g.21505675AC[8], NC_000006.11:g.21505675AC[9], NC_000006.11:g.21505675AC[10], NC_000006.11:g.21505675AC[11], NC_000006.11:g.21505675AC[12], NC_000006.11:g.21505675AC[13], NC_000006.11:g.21505675AC[14], NC_000006.11:g.21505675AC[15], NC_000006.11:g.21505675AC[16], NC_000006.11:g.21505675AC[17], NC_000006.11:g.21505675AC[18], NC_000006.11:g.21505675AC[19], NC_000006.11:g.21505675AC[20], NC_000006.11:g.21505675AC[22], NC_000006.11:g.21505675AC[23], NC_000006.11:g.21505675AC[24], NC_000006.11:g.21505675AC[25], NC_000006.11:g.21505675AC[26], NC_000006.11:g.21505675AC[27], NC_000006.11:g.21505675AC[28], NC_000006.11:g.21505675AC[29], NC_000006.11:g.21505675AC[32]
12.
rs1491043938 has merged into rs70993246 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:21510304
(GRCh38)
6:21510535
(GRCh37)
- Canonical SPDI:
- NC_000006.12:21510292:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:21510292:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:21510292:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:21510292:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:21510292:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:21510292:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:21510292:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:21510292:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:21510292:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:21510292:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:21510292:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:21510292:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:21510292:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:21510292:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:21510292:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:21510292:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:21510292:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:21510292:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:21510292:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:21510292:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:21510292:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:21510292:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:21510292:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:21510292:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:21510292:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:21510292:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:21510292:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:21510292:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC00581 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000006.12:g.21510304_21510308del, NC_000006.12:g.21510305_21510308del, NC_000006.12:g.21510306_21510308del, NC_000006.12:g.21510307_21510308del, NC_000006.12:g.21510308del, NC_000006.12:g.21510308dup, NC_000006.12:g.21510307_21510308dup, NC_000006.12:g.21510306_21510308dup, NC_000006.12:g.21510305_21510308dup, NC_000006.12:g.21510304_21510308dup, NC_000006.12:g.21510303_21510308dup, NC_000006.12:g.21510302_21510308dup, NC_000006.12:g.21510301_21510308dup, NC_000006.12:g.21510300_21510308dup, NC_000006.12:g.21510299_21510308dup, NC_000006.12:g.21510298_21510308dup, NC_000006.12:g.21510297_21510308dup, NC_000006.12:g.21510296_21510308dup, NC_000006.12:g.21510295_21510308dup, NC_000006.12:g.21510294_21510308dup, NC_000006.12:g.21510293_21510308dup, NC_000006.12:g.21510308_21510309insTTTTTTTTTTTTTTTTT, NC_000006.12:g.21510308_21510309insTTTTTTTTTTTTTTTTTT, NC_000006.12:g.21510308_21510309insTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.21510308_21510309insTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.21510308_21510309insTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.21510308_21510309insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.21510308_21510309insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.21510535_21510539del, NC_000006.11:g.21510536_21510539del, NC_000006.11:g.21510537_21510539del, NC_000006.11:g.21510538_21510539del, NC_000006.11:g.21510539del, NC_000006.11:g.21510539dup, NC_000006.11:g.21510538_21510539dup, NC_000006.11:g.21510537_21510539dup, NC_000006.11:g.21510536_21510539dup, NC_000006.11:g.21510535_21510539dup, NC_000006.11:g.21510534_21510539dup, NC_000006.11:g.21510533_21510539dup, NC_000006.11:g.21510532_21510539dup, NC_000006.11:g.21510531_21510539dup, NC_000006.11:g.21510530_21510539dup, NC_000006.11:g.21510529_21510539dup, NC_000006.11:g.21510528_21510539dup, NC_000006.11:g.21510527_21510539dup, NC_000006.11:g.21510526_21510539dup, NC_000006.11:g.21510525_21510539dup, NC_000006.11:g.21510524_21510539dup, NC_000006.11:g.21510539_21510540insTTTTTTTTTTTTTTTTT, NC_000006.11:g.21510539_21510540insTTTTTTTTTTTTTTTTTT, NC_000006.11:g.21510539_21510540insTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.21510539_21510540insTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.21510539_21510540insTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.21510539_21510540insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.21510539_21510540insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
13.
rs1490952325 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 6:21498053
(GRCh38)
6:21498284
(GRCh37)
- Canonical SPDI:
- NC_000006.12:21498052:T:C,NC_000006.12:21498052:T:G
- Gene:
- LINC00581 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000224/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000223/1
(Estonian)
C=0.004717/1
(Vietnamese)
- HGVS:
14.
rs1490768425 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:21488882
(GRCh38)
6:21489113
(GRCh37)
- Canonical SPDI:
- NC_000006.12:21488881:T:C
- Gene:
- LINC00581 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
16.
rs1490386674 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:21494964
(GRCh38)
6:21495195
(GRCh37)
- Canonical SPDI:
- NC_000006.12:21494963:C:T
- Gene:
- LINC00581 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
17.
rs1490226061 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:21512522
(GRCh38)
6:21512753
(GRCh37)
- Canonical SPDI:
- NC_000006.12:21512521:C:T
- Gene:
- LINC00581 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490219333 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:21504488
(GRCh38)
6:21504719
(GRCh37)
- Canonical SPDI:
- NC_000006.12:21504487:C:T
- Gene:
- LINC00581 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
19.
rs1489797223 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAATAAATAAA>-
[Show Flanks]
- Chromosome:
- 6:21512058
(GRCh38)
6:21512289
(GRCh37)
- Canonical SPDI:
- NC_000006.12:21512056:AAAAATAAATAAA:A
- Gene:
- LINC00581 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.00005/5
(GnomAD)
- HGVS: