Links from Gene
Items: 1 to 20 of 21091
1.
rs1491558926 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AA
[Show Flanks]
- Chromosome:
- 16:86242212
(GRCh38)
16:86275819
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86242212:A:AAA
- Gene:
- LINC01081 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAA=0./0
(
ALFA)
AA=0.000004/1
(TOPMED)
- HGVS:
2.
rs1491456562 has merged into rs60507131 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 16:86254218
(GRCh38)
16:86287824
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:86254208:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC01081 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000016.10:g.86254218_86254234del, NC_000016.10:g.86254220_86254234del, NC_000016.10:g.86254221_86254234del, NC_000016.10:g.86254222_86254234del, NC_000016.10:g.86254223_86254234del, NC_000016.10:g.86254224_86254234del, NC_000016.10:g.86254225_86254234del, NC_000016.10:g.86254226_86254234del, NC_000016.10:g.86254227_86254234del, NC_000016.10:g.86254228_86254234del, NC_000016.10:g.86254229_86254234del, NC_000016.10:g.86254230_86254234del, NC_000016.10:g.86254231_86254234del, NC_000016.10:g.86254232_86254234del, NC_000016.10:g.86254233_86254234del, NC_000016.10:g.86254234del, NC_000016.10:g.86254234dup, NC_000016.10:g.86254233_86254234dup, NC_000016.10:g.86254232_86254234dup, NC_000016.10:g.86254231_86254234dup, NC_000016.10:g.86254230_86254234dup, NC_000016.10:g.86254229_86254234dup, NC_000016.10:g.86254228_86254234dup, NC_000016.10:g.86254227_86254234dup, NC_000016.10:g.86254226_86254234dup, NC_000016.10:g.86254225_86254234dup, NC_000016.10:g.86254224_86254234dup, NC_000016.10:g.86254223_86254234dup, NC_000016.10:g.86254222_86254234dup, NC_000016.10:g.86254221_86254234dup, NC_000016.10:g.86254220_86254234dup, NC_000016.10:g.86254218_86254234dup, NC_000016.10:g.86254217_86254234dup, NC_000016.10:g.86254216_86254234dup, NC_000016.10:g.86254215_86254234dup, NC_000016.10:g.86254214_86254234dup, NC_000016.10:g.86254213_86254234dup, NC_000016.10:g.86254210_86254234dup, NC_000016.10:g.86254209_86254234dup, NC_000016.10:g.86254234_86254235insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.86254234_86254235insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.86254234_86254235insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.86254234_86254235insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.86254234_86254235insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.86254234_86254235insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.86254234_86254235insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.86254234_86254235insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.86254234_86254235insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.86254234_86254235insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.86287824_86287840del, NC_000016.9:g.86287826_86287840del, NC_000016.9:g.86287827_86287840del, NC_000016.9:g.86287828_86287840del, NC_000016.9:g.86287829_86287840del, NC_000016.9:g.86287830_86287840del, NC_000016.9:g.86287831_86287840del, NC_000016.9:g.86287832_86287840del, NC_000016.9:g.86287833_86287840del, NC_000016.9:g.86287834_86287840del, NC_000016.9:g.86287835_86287840del, NC_000016.9:g.86287836_86287840del, NC_000016.9:g.86287837_86287840del, NC_000016.9:g.86287838_86287840del, NC_000016.9:g.86287839_86287840del, NC_000016.9:g.86287840del, NC_000016.9:g.86287840dup, NC_000016.9:g.86287839_86287840dup, NC_000016.9:g.86287838_86287840dup, NC_000016.9:g.86287837_86287840dup, NC_000016.9:g.86287836_86287840dup, NC_000016.9:g.86287835_86287840dup, NC_000016.9:g.86287834_86287840dup, NC_000016.9:g.86287833_86287840dup, NC_000016.9:g.86287832_86287840dup, NC_000016.9:g.86287831_86287840dup, NC_000016.9:g.86287830_86287840dup, NC_000016.9:g.86287829_86287840dup, NC_000016.9:g.86287828_86287840dup, NC_000016.9:g.86287827_86287840dup, NC_000016.9:g.86287826_86287840dup, NC_000016.9:g.86287824_86287840dup, NC_000016.9:g.86287823_86287840dup, NC_000016.9:g.86287822_86287840dup, NC_000016.9:g.86287821_86287840dup, NC_000016.9:g.86287820_86287840dup, NC_000016.9:g.86287819_86287840dup, NC_000016.9:g.86287816_86287840dup, NC_000016.9:g.86287815_86287840dup, NC_000016.9:g.86287840_86287841insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.86287840_86287841insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.86287840_86287841insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.86287840_86287841insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.86287840_86287841insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.86287840_86287841insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.86287840_86287841insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.86287840_86287841insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.86287840_86287841insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.86287840_86287841insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
3.
rs1491399498 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTT
[Show Flanks]
- Chromosome:
- 16:86254209
(GRCh38)
16:86287816
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86254209:TT:TTCTT
- Gene:
- LINC01081 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTCTT=0./0
(
ALFA)
TTC=0.000004/1
(TOPMED)
TTC=0.000201/2
(GnomAD)
- HGVS:
5.
rs1491217138 has merged into rs143967623 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 16:86287632
(GRCh38)
16:86321238
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86287630:GCG:G
- Gene:
- LINC02135 (Varview), LINC01081 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.060169/952
(
ALFA)
-=0.108247/63
(NorthernSweden)
-=0.182079/18319
(GnomAD)
-=0.189681/3083
(TOMMO)
- HGVS:
8.
rs1491103143 has merged into rs56007807 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 16:86287656
(GRCh38)
16:86321262
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86287636:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000016.10:86287636:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000016.10:86287636:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:86287636:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:86287636:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:86287636:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:86287636:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:86287636:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- LINC02135 (Varview), LINC01081 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000016.10:g.86287638TG[9], NC_000016.10:g.86287638TG[10], NC_000016.10:g.86287638TG[11], NC_000016.10:g.86287638TG[12], NC_000016.10:g.86287638TG[13], NC_000016.10:g.86287638TG[15], NC_000016.10:g.86287638TG[16], NC_000016.10:g.86287638TG[17], NC_000016.9:g.86321244TG[9], NC_000016.9:g.86321244TG[10], NC_000016.9:g.86321244TG[11], NC_000016.9:g.86321244TG[12], NC_000016.9:g.86321244TG[13], NC_000016.9:g.86321244TG[15], NC_000016.9:g.86321244TG[16], NC_000016.9:g.86321244TG[17]
9.
rs1491062818 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 16:86239308
(GRCh38)
16:86272914
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86239306:AGA:A
- Gene:
- LINC01081 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000058/6
(GnomAD)
- HGVS:
10.
rs1490996541 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:86273039
(GRCh38)
16:86306645
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86273038:A:G
- Gene:
- LINC01081 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
11.
rs1490957211 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:86232584
(GRCh38)
16:86266190
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86232583:C:T
- Gene:
- LINC01081 (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:
12.
rs1490942302 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GCTGGTGAAGGGC>-
[Show Flanks]
- Chromosome:
- 16:86232096
(GRCh38)
16:86265702
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86232095:GCTGGTGAAGGGC:
- Gene:
- LINC01081 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
14.
rs1490920528 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:86262923
(GRCh38)
16:86296529
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86262922:C:G
- Gene:
- LINC01081 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000009/1
(GnomAD)
- HGVS:
15.
rs1490809703 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 16:86253631
(GRCh38)
16:86287237
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86253630:G:C,NC_000016.10:86253630:G:T
- Gene:
- LINC01081 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000023/6
(TOPMED)
G=0.5/1
(SGDP_PRJ)
- HGVS:
16.
rs1490783167 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 16:86287628
(GRCh38)
16:86321234
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86287626:GCG:G
- Gene:
- LINC02135 (Varview), LINC01081 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00599/71
(
ALFA)
-=0.00004/1
(TOMMO)
-=0.00056/1
(Korea1K)
-=0.01766/1494
(GnomAD)
- HGVS:
17.
rs1490688721 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:86267714
(GRCh38)
16:86301320
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86267713:T:C
- Gene:
- LINC01081 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490688056 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 16:86276964
(GRCh38)
16:86310570
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86276963:C:A,NC_000016.10:86276963:C:G
- Gene:
- LINC01081 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000177/3
(TOMMO)
- HGVS:
19.
rs1490656258 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 16:86286158
(GRCh38)
16:86319764
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86286157:G:A,NC_000016.10:86286157:G:T
- Gene:
- LINC02135 (Varview), LINC01081 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490650014 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 16:86259029
(GRCh38)
16:86292635
(GRCh37)
- Canonical SPDI:
- NC_000016.10:86259028:C:A,NC_000016.10:86259028:C:T
- Gene:
- LINC01081 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS: