Links from Gene
Items: 1 to 20 of 1000
1.
rs1491570780 has merged into rs5813813 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:75951171
(GRCh38)
15:76243512
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75951163:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NRG4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
-=0.000363/96
(TOPMED)
- HGVS:
NC_000015.10:g.75951171_75951185del, NC_000015.10:g.75951173_75951185del, NC_000015.10:g.75951174_75951185del, NC_000015.10:g.75951175_75951185del, NC_000015.10:g.75951176_75951185del, NC_000015.10:g.75951177_75951185del, NC_000015.10:g.75951178_75951185del, NC_000015.10:g.75951179_75951185del, NC_000015.10:g.75951180_75951185del, NC_000015.10:g.75951181_75951185del, NC_000015.10:g.75951182_75951185del, NC_000015.10:g.75951183_75951185del, NC_000015.10:g.75951184_75951185del, NC_000015.10:g.75951185del, NC_000015.10:g.75951185dup, NC_000015.10:g.75951184_75951185dup, NC_000015.10:g.75951183_75951185dup, NC_000015.10:g.75951182_75951185dup, NC_000015.10:g.75951164_75951185T[26]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000015.10:g.75951181_75951185dup, NC_000015.10:g.75951180_75951185dup, NC_000015.10:g.75951179_75951185dup, NC_000015.10:g.75951178_75951185dup, NC_000015.10:g.75951177_75951185dup, NC_000015.10:g.75951176_75951185dup, NC_000015.10:g.75951175_75951185dup, NC_000015.10:g.75951174_75951185dup, NC_000015.10:g.75951173_75951185dup, NC_000015.10:g.75951172_75951185dup, NC_000015.10:g.75951171_75951185dup, NC_000015.10:g.75951170_75951185dup, NC_000015.10:g.75951169_75951185dup, NC_000015.10:g.75951168_75951185dup, NC_000015.10:g.75951167_75951185dup, NC_000015.10:g.75951166_75951185dup, NC_000015.10:g.75951165_75951185dup, NC_000015.10:g.75951164_75951185dup, NC_000015.10:g.75951185_75951186insTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.75951185_75951186insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.75951185_75951186insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.75951185_75951186insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.75951185_75951186insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.75951185_75951186insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.76243512_76243526del, NC_000015.9:g.76243514_76243526del, NC_000015.9:g.76243515_76243526del, NC_000015.9:g.76243516_76243526del, NC_000015.9:g.76243517_76243526del, NC_000015.9:g.76243518_76243526del, NC_000015.9:g.76243519_76243526del, NC_000015.9:g.76243520_76243526del, NC_000015.9:g.76243521_76243526del, NC_000015.9:g.76243522_76243526del, NC_000015.9:g.76243523_76243526del, NC_000015.9:g.76243524_76243526del, NC_000015.9:g.76243525_76243526del, NC_000015.9:g.76243526del, NC_000015.9:g.76243526dup, NC_000015.9:g.76243525_76243526dup, NC_000015.9:g.76243524_76243526dup, NC_000015.9:g.76243523_76243526dup, NC_000015.9:g.76243505_76243526T[26]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000015.9:g.76243522_76243526dup, NC_000015.9:g.76243521_76243526dup, NC_000015.9:g.76243520_76243526dup, NC_000015.9:g.76243519_76243526dup, NC_000015.9:g.76243518_76243526dup, NC_000015.9:g.76243517_76243526dup, NC_000015.9:g.76243516_76243526dup, NC_000015.9:g.76243515_76243526dup, NC_000015.9:g.76243514_76243526dup, NC_000015.9:g.76243513_76243526dup, NC_000015.9:g.76243512_76243526dup, NC_000015.9:g.76243511_76243526dup, NC_000015.9:g.76243510_76243526dup, NC_000015.9:g.76243509_76243526dup, NC_000015.9:g.76243508_76243526dup, NC_000015.9:g.76243507_76243526dup, NC_000015.9:g.76243506_76243526dup, NC_000015.9:g.76243505_76243526dup, NC_000015.9:g.76243526_76243527insTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.76243526_76243527insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.76243526_76243527insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.76243526_76243527insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.76243526_76243527insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.76243526_76243527insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
4.
rs1491507728 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 15:75951169
(GRCh38)
15:76243511
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75951169::C
- Gene:
- NRG4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00013/3
(TOMMO)
- HGVS:
5.
rs1491410676 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 15:75967456
(GRCh38)
15:76259797
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75967455:AT:
- Gene:
- NRG4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000011/1
(GnomAD)
- HGVS:
6.
rs1491397310 has merged into rs58256641 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:75937520
(GRCh38)
15:76229861
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75937508:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:75937508:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:75937508:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:75937508:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:75937508:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:75937508:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:75937508:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:75937508:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:75937508:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:75937508:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:75937508:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75937508:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75937508:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75937508:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75937508:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75937508:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75937508:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75937508:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75937508:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75937508:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75937508:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75937508:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- FBXO22 (Varview), NRG4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
AAAAA=0./0
(GENOME_DK)
- HGVS:
NC_000015.10:g.75937520_75937532del, NC_000015.10:g.75937521_75937532del, NC_000015.10:g.75937522_75937532del, NC_000015.10:g.75937523_75937532del, NC_000015.10:g.75937524_75937532del, NC_000015.10:g.75937525_75937532del, NC_000015.10:g.75937526_75937532del, NC_000015.10:g.75937527_75937532del, NC_000015.10:g.75937528_75937532del, NC_000015.10:g.75937529_75937532del, NC_000015.10:g.75937530_75937532del, NC_000015.10:g.75937531_75937532del, NC_000015.10:g.75937532del, NC_000015.10:g.75937532dup, NC_000015.10:g.75937531_75937532dup, NC_000015.10:g.75937530_75937532dup, NC_000015.10:g.75937529_75937532dup, NC_000015.10:g.75937528_75937532dup, NC_000015.10:g.75937527_75937532dup, NC_000015.10:g.75937526_75937532dup, NC_000015.10:g.75937525_75937532dup, NC_000015.10:g.75937524_75937532dup, NC_000015.9:g.76229861_76229873del, NC_000015.9:g.76229862_76229873del, NC_000015.9:g.76229863_76229873del, NC_000015.9:g.76229864_76229873del, NC_000015.9:g.76229865_76229873del, NC_000015.9:g.76229866_76229873del, NC_000015.9:g.76229867_76229873del, NC_000015.9:g.76229868_76229873del, NC_000015.9:g.76229869_76229873del, NC_000015.9:g.76229870_76229873del, NC_000015.9:g.76229871_76229873del, NC_000015.9:g.76229872_76229873del, NC_000015.9:g.76229873del, NC_000015.9:g.76229873dup, NC_000015.9:g.76229872_76229873dup, NC_000015.9:g.76229871_76229873dup, NC_000015.9:g.76229870_76229873dup, NC_000015.9:g.76229869_76229873dup, NC_000015.9:g.76229868_76229873dup, NC_000015.9:g.76229867_76229873dup, NC_000015.9:g.76229866_76229873dup, NC_000015.9:g.76229865_76229873dup, NM_147188.3:c.*4418_*4430del, NM_147188.3:c.*4419_*4430del, NM_147188.3:c.*4420_*4430del, NM_147188.3:c.*4421_*4430del, NM_147188.3:c.*4422_*4430del, NM_147188.3:c.*4423_*4430del, NM_147188.3:c.*4424_*4430del, NM_147188.3:c.*4425_*4430del, NM_147188.3:c.*4426_*4430del, NM_147188.3:c.*4427_*4430del, NM_147188.3:c.*4428_*4430del, NM_147188.3:c.*4429_*4430del, NM_147188.3:c.*4430del, NM_147188.3:c.*4430dup, NM_147188.3:c.*4429_*4430dup, NM_147188.3:c.*4428_*4430dup, NM_147188.3:c.*4427_*4430dup, NM_147188.3:c.*4426_*4430dup, NM_147188.3:c.*4425_*4430dup, NM_147188.3:c.*4424_*4430dup, NM_147188.3:c.*4423_*4430dup, NM_147188.3:c.*4422_*4430dup, NR_037623.2:n.5577_5589del, NR_037623.2:n.5578_5589del, NR_037623.2:n.5579_5589del, NR_037623.2:n.5580_5589del, NR_037623.2:n.5581_5589del, NR_037623.2:n.5582_5589del, NR_037623.2:n.5583_5589del, NR_037623.2:n.5584_5589del, NR_037623.2:n.5585_5589del, NR_037623.2:n.5586_5589del, NR_037623.2:n.5587_5589del, NR_037623.2:n.5588_5589del, NR_037623.2:n.5589del, NR_037623.2:n.5589dup, NR_037623.2:n.5588_5589dup, NR_037623.2:n.5587_5589dup, NR_037623.2:n.5586_5589dup, NR_037623.2:n.5585_5589dup, NR_037623.2:n.5584_5589dup, NR_037623.2:n.5583_5589dup, NR_037623.2:n.5582_5589dup, NR_037623.2:n.5581_5589dup, XM_047432382.1:c.*4418_*4430del, XM_047432382.1:c.*4419_*4430del, XM_047432382.1:c.*4420_*4430del, XM_047432382.1:c.*4421_*4430del, XM_047432382.1:c.*4422_*4430del, XM_047432382.1:c.*4423_*4430del, XM_047432382.1:c.*4424_*4430del, XM_047432382.1:c.*4425_*4430del, XM_047432382.1:c.*4426_*4430del, XM_047432382.1:c.*4427_*4430del, XM_047432382.1:c.*4428_*4430del, XM_047432382.1:c.*4429_*4430del, XM_047432382.1:c.*4430del, XM_047432382.1:c.*4430dup, XM_047432382.1:c.*4429_*4430dup, XM_047432382.1:c.*4428_*4430dup, XM_047432382.1:c.*4427_*4430dup, XM_047432382.1:c.*4426_*4430dup, XM_047432382.1:c.*4425_*4430dup, XM_047432382.1:c.*4424_*4430dup, XM_047432382.1:c.*4423_*4430dup, XM_047432382.1:c.*4422_*4430dup
8.
rs1491359271 has merged into rs5813815 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:75980394
(GRCh38)
15:76272735
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75980383:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:75980383:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:75980383:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:75980383:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:75980383:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:75980383:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:75980383:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:75980383:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:75980383:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75980383:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NRG4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.1624/626
(ALSPAC)
-=0.4024/2015
(1000Genomes)
- HGVS:
NC_000015.10:g.75980394_75980400del, NC_000015.10:g.75980397_75980400del, NC_000015.10:g.75980398_75980400del, NC_000015.10:g.75980399_75980400del, NC_000015.10:g.75980400del, NC_000015.10:g.75980400dup, NC_000015.10:g.75980399_75980400dup, NC_000015.10:g.75980398_75980400dup, NC_000015.10:g.75980400_75980401insTTTTTTTTTTTTTTTTTT, NC_000015.10:g.75980400_75980401insTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.76272735_76272741del, NC_000015.9:g.76272738_76272741del, NC_000015.9:g.76272739_76272741del, NC_000015.9:g.76272740_76272741del, NC_000015.9:g.76272741del, NC_000015.9:g.76272741dup, NC_000015.9:g.76272740_76272741dup, NC_000015.9:g.76272739_76272741dup, NC_000015.9:g.76272741_76272742insTTTTTTTTTTTTTTTTTT, NC_000015.9:g.76272741_76272742insTTTTTTTTTTTTTTTTTTT
9.
rs1491356977 has merged into rs71444951 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:76050447
(GRCh38)
15:76342788
(GRCh37)
- Canonical SPDI:
- NC_000015.10:76050437:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000015.10:76050437:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:76050437:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:76050437:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:76050437:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:76050437:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:76050437:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:76050437:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:76050437:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:76050437:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:76050437:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:76050437:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:76050437:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:76050437:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:76050437:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:76050437:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:76050437:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:76050437:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:76050437:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:76050437:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:76050437:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:76050437:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:76050437:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:76050437:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NRG4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.5/20
(GENOME_DK)
- HGVS:
NC_000015.10:g.76050447_76050459del, NC_000015.10:g.76050448_76050459del, NC_000015.10:g.76050449_76050459del, NC_000015.10:g.76050450_76050459del, NC_000015.10:g.76050451_76050459del, NC_000015.10:g.76050452_76050459del, NC_000015.10:g.76050453_76050459del, NC_000015.10:g.76050454_76050459del, NC_000015.10:g.76050455_76050459del, NC_000015.10:g.76050456_76050459del, NC_000015.10:g.76050457_76050459del, NC_000015.10:g.76050458_76050459del, NC_000015.10:g.76050459del, NC_000015.10:g.76050459dup, NC_000015.10:g.76050458_76050459dup, NC_000015.10:g.76050457_76050459dup, NC_000015.10:g.76050456_76050459dup, NC_000015.10:g.76050455_76050459dup, NC_000015.10:g.76050454_76050459dup, NC_000015.10:g.76050453_76050459dup, NC_000015.10:g.76050452_76050459dup, NC_000015.10:g.76050451_76050459dup, NC_000015.10:g.76050450_76050459dup, NC_000015.10:g.76050448_76050459dup, NC_000015.9:g.76342788_76342800del, NC_000015.9:g.76342789_76342800del, NC_000015.9:g.76342790_76342800del, NC_000015.9:g.76342791_76342800del, NC_000015.9:g.76342792_76342800del, NC_000015.9:g.76342793_76342800del, NC_000015.9:g.76342794_76342800del, NC_000015.9:g.76342795_76342800del, NC_000015.9:g.76342796_76342800del, NC_000015.9:g.76342797_76342800del, NC_000015.9:g.76342798_76342800del, NC_000015.9:g.76342799_76342800del, NC_000015.9:g.76342800del, NC_000015.9:g.76342800dup, NC_000015.9:g.76342799_76342800dup, NC_000015.9:g.76342798_76342800dup, NC_000015.9:g.76342797_76342800dup, NC_000015.9:g.76342796_76342800dup, NC_000015.9:g.76342795_76342800dup, NC_000015.9:g.76342794_76342800dup, NC_000015.9:g.76342793_76342800dup, NC_000015.9:g.76342792_76342800dup, NC_000015.9:g.76342791_76342800dup, NC_000015.9:g.76342789_76342800dup
10.
rs1491342036 has merged into rs10572540 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 15:76023155
(GRCh38)
15:76315496
(GRCh37)
- Canonical SPDI:
- NC_000015.10:76023130:CACACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000015.10:76023130:CACACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000015.10:76023130:CACACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000015.10:76023130:CACACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000015.10:76023130:CACACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000015.10:76023130:CACACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000015.10:76023130:CACACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000015.10:76023130:CACACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000015.10:76023130:CACACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000015.10:76023130:CACACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:76023130:CACACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:76023130:CACACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:76023130:CACACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:76023130:CACACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:76023130:CACACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:76023130:CACACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:76023130:CACACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:76023130:CACACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:76023130:CACACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:76023130:CACACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:76023130:CACACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:76023130:CACACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:76023130:CACACACACACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- NRG4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACACACACACA=0./0
(
ALFA)
-=0.3768/1452
(ALSPAC)
- HGVS:
NC_000015.10:g.76023131CA[12], NC_000015.10:g.76023131CA[13], NC_000015.10:g.76023131CA[14], NC_000015.10:g.76023131CA[15], NC_000015.10:g.76023131CA[16], NC_000015.10:g.76023131CA[17], NC_000015.10:g.76023131CA[18], NC_000015.10:g.76023131CA[19], NC_000015.10:g.76023131CA[20], NC_000015.10:g.76023131CA[21], NC_000015.10:g.76023131CA[22], NC_000015.10:g.76023131CA[23], NC_000015.10:g.76023131CA[24], NC_000015.10:g.76023131CA[25], NC_000015.10:g.76023131CA[26], NC_000015.10:g.76023131CA[28], NC_000015.10:g.76023131CA[29], NC_000015.10:g.76023131CA[30], NC_000015.10:g.76023131CA[31], NC_000015.10:g.76023131CA[32], NC_000015.10:g.76023131CA[33], NC_000015.10:g.76023131CA[34], NC_000015.10:g.76023131CA[37], NC_000015.9:g.76315472CA[12], NC_000015.9:g.76315472CA[13], NC_000015.9:g.76315472CA[14], NC_000015.9:g.76315472CA[15], NC_000015.9:g.76315472CA[16], NC_000015.9:g.76315472CA[17], NC_000015.9:g.76315472CA[18], NC_000015.9:g.76315472CA[19], NC_000015.9:g.76315472CA[20], NC_000015.9:g.76315472CA[21], NC_000015.9:g.76315472CA[22], NC_000015.9:g.76315472CA[23], NC_000015.9:g.76315472CA[24], NC_000015.9:g.76315472CA[25], NC_000015.9:g.76315472CA[26], NC_000015.9:g.76315472CA[28], NC_000015.9:g.76315472CA[29], NC_000015.9:g.76315472CA[30], NC_000015.9:g.76315472CA[31], NC_000015.9:g.76315472CA[32], NC_000015.9:g.76315472CA[33], NC_000015.9:g.76315472CA[34], NC_000015.9:g.76315472CA[37]
11.
rs1491341314 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T,TGTGT
[Show Flanks]
- Chromosome:
- 15:75944769
(GRCh38)
15:76237111
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75944769::T,NC_000015.10:75944769::TGTGT
- Gene:
- NRG4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGT=0./0
(
ALFA)
T=0.000071/9
(GnomAD)
- HGVS:
12.
rs1491293629 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 15:75941940
(GRCh38)
15:76234281
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75941939:CA:
- Gene:
- FBXO22 (Varview), NRG4 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000015.10:g.75941940_75941941del, NC_000015.9:g.76234281_76234282del, NM_138573.4:c.*1697_*1698del, NM_147188.3:c.*8838_*8839del, XM_017021948.3:c.*1697_*1698del, XM_017021948.2:c.*1697_*1698del, XM_017021948.1:c.*1697_*1698del, NR_037623.2:n.9997_9998del, XM_024449848.2:c.*1697_*1698del, XM_024449848.1:c.*1697_*1698del, XM_047432382.1:c.*8838_*8839del, XM_047432186.1:c.*1697_*1698del, XM_047432185.1:c.*1697_*1698del
14.
rs1491275591 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CC>-
[Show Flanks]
- Chromosome:
- 15:76023130
(GRCh38)
15:76315471
(GRCh37)
- Canonical SPDI:
- NC_000015.10:76023129:CC:
- Gene:
- NRG4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.00001/1
(GnomAD)
- HGVS:
15.
rs1491274969 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 15:76050438
(GRCh38)
15:76342780
(GRCh37)
- Canonical SPDI:
- NC_000015.10:76050438::A
- Gene:
- NRG4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
17.
rs1491233522 has merged into rs71140188 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:75963791
(GRCh38)
15:76256132
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75963777:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:75963777:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:75963777:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:75963777:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:75963777:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:75963777:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75963777:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75963777:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75963777:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75963777:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NRG4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.1238/620
(1000Genomes)
- HGVS:
NC_000015.10:g.75963791_75963797del, NC_000015.10:g.75963794_75963797del, NC_000015.10:g.75963795_75963797del, NC_000015.10:g.75963796_75963797del, NC_000015.10:g.75963797del, NC_000015.10:g.75963797dup, NC_000015.10:g.75963796_75963797dup, NC_000015.10:g.75963795_75963797dup, NC_000015.10:g.75963794_75963797dup, NC_000015.10:g.75963792_75963797dup, NC_000015.9:g.76256132_76256138del, NC_000015.9:g.76256135_76256138del, NC_000015.9:g.76256136_76256138del, NC_000015.9:g.76256137_76256138del, NC_000015.9:g.76256138del, NC_000015.9:g.76256138dup, NC_000015.9:g.76256137_76256138dup, NC_000015.9:g.76256136_76256138dup, NC_000015.9:g.76256135_76256138dup, NC_000015.9:g.76256133_76256138dup
18.
rs1491231741 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 15:76017155
(GRCh38)
15:76309496
(GRCh37)
- Canonical SPDI:
- NC_000015.10:76017154:CT:
- Gene:
- NRG4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00007/4
(GnomAD)
-=0.00022/4
(TOMMO)
-=0.00219/4
(Korea1K)
- HGVS:
20.
rs1491215678 has merged into rs5813810 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTG>-,TG,TGTGTG
[Show Flanks]
- Chromosome:
- 15:75944766
(GRCh38)
15:76237107
(GRCh37)
- Canonical SPDI:
- NC_000015.10:75944755:TGTGTGTGTGTGTG:TGTGTGTGTG,NC_000015.10:75944755:TGTGTGTGTGTGTG:TGTGTGTGTGTG,NC_000015.10:75944755:TGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG
- Gene:
- NRG4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTG=0./0
(
ALFA)
-=0.00441/17
(ALSPAC)
TG=0.00615/103
(TOMMO)
TG=0.00764/14
(Korea1K)
TG=0.00943/2
(Vietnamese)
TG=0.02806/28
(GoNL)
TG=0.03259/146
(Estonian)
TG=0.03344/20
(NorthernSweden)
TG=0.04653/233
(1000Genomes)
TG=0.075/3
(GENOME_DK)
- HGVS: