Links from Gene
Items: 1 to 20 of 6053
1.
rs1491426534 has merged into rs71152695 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT
[Show Flanks]
- Chromosome:
- 17:40690807
(GRCh38)
17:38847059
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40690795:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:40690795:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:40690795:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:40690795:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:40690795:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:40690795:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:40690795:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- LOC105371775 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
T=0.001168/33
(TOMMO)
-=0.054912/275
(1000Genomes)
T=0.263158/10
(GENOME_DK)
- HGVS:
NC_000017.11:g.40690807_40690811del, NC_000017.11:g.40690809_40690811del, NC_000017.11:g.40690810_40690811del, NC_000017.11:g.40690811del, NC_000017.11:g.40690811dup, NC_000017.11:g.40690810_40690811dup, NC_000017.11:g.40690809_40690811dup, NC_000017.10:g.38847059_38847063del, NC_000017.10:g.38847061_38847063del, NC_000017.10:g.38847062_38847063del, NC_000017.10:g.38847063del, NC_000017.10:g.38847063dup, NC_000017.10:g.38847062_38847063dup, NC_000017.10:g.38847061_38847063dup
2.
rs1491406221 has merged into rs576179383 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:40688279
(GRCh38)
17:38844531
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:40688267:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LOC105371775 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
TTTTTTTTTTTTTTTT=0./0
(GENOME_DK)
- HGVS:
NC_000017.11:g.40688279_40688297del, NC_000017.11:g.40688280_40688297del, NC_000017.11:g.40688281_40688297del, NC_000017.11:g.40688282_40688297del, NC_000017.11:g.40688283_40688297del, NC_000017.11:g.40688284_40688297del, NC_000017.11:g.40688285_40688297del, NC_000017.11:g.40688286_40688297del, NC_000017.11:g.40688287_40688297del, NC_000017.11:g.40688288_40688297del, NC_000017.11:g.40688289_40688297del, NC_000017.11:g.40688290_40688297del, NC_000017.11:g.40688291_40688297del, NC_000017.11:g.40688292_40688297del, NC_000017.11:g.40688293_40688297del, NC_000017.11:g.40688294_40688297del, NC_000017.11:g.40688295_40688297del, NC_000017.11:g.40688296_40688297del, NC_000017.11:g.40688297del, NC_000017.11:g.40688297dup, NC_000017.11:g.40688296_40688297dup, NC_000017.11:g.40688295_40688297dup, NC_000017.11:g.40688294_40688297dup, NC_000017.11:g.40688293_40688297dup, NC_000017.11:g.40688292_40688297dup, NC_000017.11:g.40688291_40688297dup, NC_000017.11:g.40688290_40688297dup, NC_000017.11:g.40688289_40688297dup, NC_000017.11:g.40688288_40688297dup, NC_000017.11:g.40688287_40688297dup, NC_000017.11:g.40688286_40688297dup, NC_000017.11:g.40688285_40688297dup, NC_000017.11:g.40688284_40688297dup, NC_000017.11:g.40688283_40688297dup, NC_000017.11:g.40688282_40688297dup, NC_000017.11:g.40688281_40688297dup, NC_000017.11:g.40688280_40688297dup, NC_000017.11:g.40688279_40688297dup, NC_000017.11:g.40688278_40688297dup, NC_000017.11:g.40688277_40688297dup, NC_000017.11:g.40688276_40688297dup, NC_000017.11:g.40688275_40688297dup, NC_000017.11:g.40688274_40688297dup, NC_000017.11:g.40688268_40688297dup, NC_000017.11:g.40688297_40688298insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.40688297_40688298insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.40688297_40688298insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.40688297_40688298insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.38844531_38844549del, NC_000017.10:g.38844532_38844549del, NC_000017.10:g.38844533_38844549del, NC_000017.10:g.38844534_38844549del, NC_000017.10:g.38844535_38844549del, NC_000017.10:g.38844536_38844549del, NC_000017.10:g.38844537_38844549del, NC_000017.10:g.38844538_38844549del, NC_000017.10:g.38844539_38844549del, NC_000017.10:g.38844540_38844549del, NC_000017.10:g.38844541_38844549del, NC_000017.10:g.38844542_38844549del, NC_000017.10:g.38844543_38844549del, NC_000017.10:g.38844544_38844549del, NC_000017.10:g.38844545_38844549del, NC_000017.10:g.38844546_38844549del, NC_000017.10:g.38844547_38844549del, NC_000017.10:g.38844548_38844549del, NC_000017.10:g.38844549del, NC_000017.10:g.38844549dup, NC_000017.10:g.38844548_38844549dup, NC_000017.10:g.38844547_38844549dup, NC_000017.10:g.38844546_38844549dup, NC_000017.10:g.38844545_38844549dup, NC_000017.10:g.38844544_38844549dup, NC_000017.10:g.38844543_38844549dup, NC_000017.10:g.38844542_38844549dup, NC_000017.10:g.38844541_38844549dup, NC_000017.10:g.38844540_38844549dup, NC_000017.10:g.38844539_38844549dup, NC_000017.10:g.38844538_38844549dup, NC_000017.10:g.38844537_38844549dup, NC_000017.10:g.38844536_38844549dup, NC_000017.10:g.38844535_38844549dup, NC_000017.10:g.38844534_38844549dup, NC_000017.10:g.38844533_38844549dup, NC_000017.10:g.38844532_38844549dup, NC_000017.10:g.38844531_38844549dup, NC_000017.10:g.38844530_38844549dup, NC_000017.10:g.38844529_38844549dup, NC_000017.10:g.38844528_38844549dup, NC_000017.10:g.38844527_38844549dup, NC_000017.10:g.38844526_38844549dup, NC_000017.10:g.38844520_38844549dup, NC_000017.10:g.38844549_38844550insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.38844549_38844550insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.38844549_38844550insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.38844549_38844550insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
3.
rs1491211613 has merged into rs1555608843 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 17:40679934
(GRCh38)
17:38836186
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40679918:TATATATATATATATAT:TATATATATATATAT,NC_000017.11:40679918:TATATATATATATATAT:TATATATATATATATATAT,NC_000017.11:40679918:TATATATATATATATAT:TATATATATATATATATATAT,NC_000017.11:40679918:TATATATATATATATAT:TATATATATATATATATATATAT,NC_000017.11:40679918:TATATATATATATATAT:TATATATATATATATATATATATAT,NC_000017.11:40679918:TATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000017.11:40679918:TATATATATATATATAT:TATATATATATATATATATATATATATATATAT,NC_000017.11:40679918:TATATATATATATATAT:TATATATATATATATATATATATATATATATATAT,NC_000017.11:40679918:TATATATATATATATAT:TATATATATATATATATATATATATATATATATATAT
- Gene:
- LOC105371775 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATATATATATATATATAT=0./0
(
ALFA)
TATATATATATATATATA=0.000004/1
(TOPMED)
- HGVS:
NC_000017.11:g.40679920AT[7], NC_000017.11:g.40679920AT[9], NC_000017.11:g.40679920AT[10], NC_000017.11:g.40679920AT[11], NC_000017.11:g.40679920AT[12], NC_000017.11:g.40679920AT[13], NC_000017.11:g.40679920AT[16], NC_000017.11:g.40679920AT[17], NC_000017.11:g.40679920AT[18], NC_000017.10:g.38836172AT[7], NC_000017.10:g.38836172AT[9], NC_000017.10:g.38836172AT[10], NC_000017.10:g.38836172AT[11], NC_000017.10:g.38836172AT[12], NC_000017.10:g.38836172AT[13], NC_000017.10:g.38836172AT[16], NC_000017.10:g.38836172AT[17], NC_000017.10:g.38836172AT[18]
4.
rs1491144878 has merged into rs35557469 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:40679941
(GRCh38)
17:38836193
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40679934:TTTTTTTTTTTTT:TTTTTT,NC_000017.11:40679934:TTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:40679934:TTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:40679934:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:40679934:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:40679934:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:40679934:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:40679934:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:40679934:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:40679934:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:40679934:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:40679934:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
- Gene:
- LOC105371775 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000017.11:g.40679941_40679947del, NC_000017.11:g.40679943_40679947del, NC_000017.11:g.40679944_40679947del, NC_000017.11:g.40679945_40679947del, NC_000017.11:g.40679946_40679947del, NC_000017.11:g.40679947del, NC_000017.11:g.40679947dup, NC_000017.11:g.40679946_40679947dup, NC_000017.11:g.40679945_40679947dup, NC_000017.11:g.40679944_40679947dup, NC_000017.11:g.40679943_40679947dup, NC_000017.11:g.40679940_40679947dup, NC_000017.10:g.38836193_38836199del, NC_000017.10:g.38836195_38836199del, NC_000017.10:g.38836196_38836199del, NC_000017.10:g.38836197_38836199del, NC_000017.10:g.38836198_38836199del, NC_000017.10:g.38836199del, NC_000017.10:g.38836199dup, NC_000017.10:g.38836198_38836199dup, NC_000017.10:g.38836197_38836199dup, NC_000017.10:g.38836196_38836199dup, NC_000017.10:g.38836195_38836199dup, NC_000017.10:g.38836192_38836199dup
5.
rs1491136332 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTTTTT
[Show Flanks]
- Chromosome:
- 17:40688268
(GRCh38)
17:38844521
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40688268:TTTTT:TTTTTGTTTTT
- Gene:
- LOC105371775 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTTTGTTTTT=0.00152/18
(
ALFA)
- HGVS:
6.
rs1491133478 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,G
[Show Flanks]
- Chromosome:
- 17:40690796
(GRCh38)
17:38847049
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40690796::C,NC_000017.11:40690796::G
- Gene:
- LOC105371775 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000008/1
(GnomAD)
C=0.000071/1
(TOMMO)
- HGVS:
7.
rs1491084191 has merged into rs200588677 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 17:40690919
(GRCh38)
17:38847171
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40690917:GGG:G
- Gene:
- LOC105371775 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.062883/8732
(GnomAD)
-=0.068551/439
(1000Genomes)
- HGVS:
8.
rs1490951086 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:40688887
(GRCh38)
17:38845139
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40688886:A:G
- Gene:
- LOC105371775 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490887909 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:40682414
(GRCh38)
17:38838666
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40682413:G:A
- Gene:
- LOC105371775 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490796596 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 17:40681310
(GRCh38)
17:38837562
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40681309:T:G
- Gene:
- LOC105371775 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490718542 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:40672315
(GRCh38)
17:38828567
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40672314:T:C
- Gene:
- LOC105371775 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
C=0.00463/1
(Vietnamese)
- HGVS:
12.
rs1490633491 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:40681931
(GRCh38)
17:38838183
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40681930:T:C
- Gene:
- LOC105371775 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
13.
rs1490496046 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:40689434
(GRCh38)
17:38845686
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40689433:C:T
- Gene:
- LOC105371775 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
14.
rs1490491043 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:40690520
(GRCh38)
17:38846772
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40690519:A:G
- Gene:
- LOC105371775 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
15.
rs1490458920 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 17:40688043
(GRCh38)
17:38844295
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40688042:A:T
- Gene:
- LOC105371775 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
16.
rs1490359748 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:40674588
(GRCh38)
17:38830840
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40674587:T:C
- Gene:
- LOC105371775 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000008/1
(GnomAD)
- HGVS:
17.
rs1489831189 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:40689577
(GRCh38)
17:38845829
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40689576:C:A
- Gene:
- LOC105371775 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.0005/1
(Korea1K)
- HGVS:
18.
rs1489672103 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:40671117
(GRCh38)
17:38827369
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40671116:T:C
- Gene:
- LOC105371775 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000022/3
(GnomAD)
- HGVS:
19.
rs1489643367 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:40672587
(GRCh38)
17:38828839
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40672586:G:A
- Gene:
- LOC105371775 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1489504510 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:40684311
(GRCh38)
17:38840563
(GRCh37)
- Canonical SPDI:
- NC_000017.11:40684310:C:T
- Gene:
- LOC105371775 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS: