Links from Gene
Items: 1 to 20 of 12528
1.
rs1491589453 has merged into rs1367626429 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 22:15771926
(GRCh38)
22:16206032
(GRCh37)
- Canonical SPDI:
- NC_000022.11:15771925:TTTTTT:TTTTT,NC_000022.11:15771925:TTTTTT:TTTTTTT
- Gene:
- PSLNR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTTTTT=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
- HGVS:
3.
rs1491551283 has merged into rs1315229058 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 22:15745256
(GRCh38)
22:16232701
(GRCh37)
- Canonical SPDI:
- NC_000022.11:15745256:TTTTTT:TTTTTTT
- Gene:
- PSLNR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
T=0.000043/6
(GnomAD)
A=0.00006/1
(TOMMO)
T=0.000468/3
(1000Genomes)
- HGVS:
4.
rs1491549136 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-,CTCT
[Show Flanks]
- Chromosome:
- 22:15745875
(GRCh38)
22:16232088
(GRCh37)
- Canonical SPDI:
- NC_000022.11:15745873:TCT:T,NC_000022.11:15745873:TCT:TCTCT
- Gene:
- PSLNR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TCTCT=0./0
(
ALFA)
-=0.0003/12
(GnomAD)
- HGVS:
5.
rs1491539704 has merged into rs1390978768 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 22:15771925
(GRCh38)
22:16206038
(GRCh37)
- Canonical SPDI:
- NC_000022.11:15771923:TCT:T
- Gene:
- PSLNR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000084/1
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
6.
rs1491522736 has merged into rs376120633 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 22:15749855
(GRCh38)
22:16228113
(GRCh37)
- Canonical SPDI:
- NC_000022.11:15749846:TTTTTTTTTTTT:TTTTTTTT,NC_000022.11:15749846:TTTTTTTTTTTT:TTTTTTTTT,NC_000022.11:15749846:TTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:15749846:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:15749846:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:15749846:TTTTTTTTTTTT:TTTTTTTTTTTTTT
- Gene:
- PSLNR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
A=0.12667/76
(NorthernSweden)
A=0.25/10
(GENOME_DK)
- HGVS:
NC_000022.11:g.15749855_15749858del, NC_000022.11:g.15749856_15749858del, NC_000022.11:g.15749857_15749858del, NC_000022.11:g.15749858del, NC_000022.11:g.15749858dup, NC_000022.11:g.15749857_15749858dup, NC_000022.10:g.16228113_16228116del, NC_000022.10:g.16228114_16228116del, NC_000022.10:g.16228115_16228116del, NC_000022.10:g.16228116del, NC_000022.10:g.16228116dup, NC_000022.10:g.16228115_16228116dup
10.
rs1491413100 has merged into rs529278142 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTT>-,CTTCTT
[Show Flanks]
- Chromosome:
- 22:15745902
(GRCh38)
22:16232061
(GRCh37)
- Canonical SPDI:
- NC_000022.11:15745899:TTCTT:TT,NC_000022.11:15745899:TTCTT:TTCTTCTT
- Gene:
- PSLNR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTCTTCTT=0.00101/12
(
ALFA)
TTC=0.01056/156
(TOMMO)
- HGVS:
11.
rs1491401048 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 22:15749847
(GRCh38)
22:16228116
(GRCh37)
- Canonical SPDI:
- NC_000022.11:15749847::C
- Gene:
- PSLNR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.00018/3
(
ALFA)
C=0.00004/2
(GnomAD)
- HGVS:
12.
rs1491343513 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-,CTCT
[Show Flanks]
- Chromosome:
- 22:15745894
(GRCh38)
22:16232069
(GRCh37)
- Canonical SPDI:
- NC_000022.11:15745892:TCT:T,NC_000022.11:15745892:TCT:TCTCT
- Gene:
- PSLNR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00009/1
(
ALFA)
AG=0.00379/2
(NorthernSweden)
AG=0.00501/72
(TOMMO)
- HGVS:
13.
rs1491335244 has merged into rs3043371 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 22:15746172
(GRCh38)
22:16231793
(GRCh37)
- Canonical SPDI:
- NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:15746158:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PSLNR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000022.11:g.15746172_15746183del, NC_000022.11:g.15746173_15746183del, NC_000022.11:g.15746174_15746183del, NC_000022.11:g.15746175_15746183del, NC_000022.11:g.15746176_15746183del, NC_000022.11:g.15746177_15746183del, NC_000022.11:g.15746178_15746183del, NC_000022.11:g.15746179_15746183del, NC_000022.11:g.15746180_15746183del, NC_000022.11:g.15746181_15746183del, NC_000022.11:g.15746182_15746183del, NC_000022.11:g.15746183del, NC_000022.11:g.15746183dup, NC_000022.11:g.15746182_15746183dup, NC_000022.11:g.15746181_15746183dup, NC_000022.11:g.15746180_15746183dup, NC_000022.11:g.15746179_15746183dup, NC_000022.11:g.15746178_15746183dup, NC_000022.11:g.15746177_15746183dup, NC_000022.11:g.15746176_15746183dup, NC_000022.11:g.15746175_15746183dup, NC_000022.11:g.15746174_15746183dup, NC_000022.11:g.15746173_15746183dup, NC_000022.11:g.15746172_15746183dup, NC_000022.11:g.15746171_15746183dup, NC_000022.11:g.15746170_15746183dup, NC_000022.11:g.15746169_15746183dup, NC_000022.11:g.15746168_15746183dup, NC_000022.11:g.15746167_15746183dup, NC_000022.11:g.15746166_15746183dup, NC_000022.11:g.15746165_15746183dup, NC_000022.11:g.15746164_15746183dup, NC_000022.11:g.15746163_15746183dup, NC_000022.11:g.15746162_15746183dup, NC_000022.11:g.15746161_15746183dup, NC_000022.11:g.15746160_15746183dup, NC_000022.11:g.15746159_15746183dup, NC_000022.11:g.15746183_15746184insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.15746183_15746184insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.15746183_15746184insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.15746183_15746184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.15746183_15746184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.15746183_15746184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.15746183_15746184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.15746183_15746184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.15746183_15746184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.15746183_15746184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.15746183_15746184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.15746183_15746184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.11:g.15746183_15746184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.16231793_16231804del, NC_000022.10:g.16231794_16231804del, NC_000022.10:g.16231795_16231804del, NC_000022.10:g.16231796_16231804del, NC_000022.10:g.16231797_16231804del, NC_000022.10:g.16231798_16231804del, NC_000022.10:g.16231799_16231804del, NC_000022.10:g.16231800_16231804del, NC_000022.10:g.16231801_16231804del, NC_000022.10:g.16231802_16231804del, NC_000022.10:g.16231803_16231804del, NC_000022.10:g.16231804del, NC_000022.10:g.16231804dup, NC_000022.10:g.16231803_16231804dup, NC_000022.10:g.16231802_16231804dup, NC_000022.10:g.16231801_16231804dup, NC_000022.10:g.16231800_16231804dup, NC_000022.10:g.16231799_16231804dup, NC_000022.10:g.16231798_16231804dup, NC_000022.10:g.16231797_16231804dup, NC_000022.10:g.16231796_16231804dup, NC_000022.10:g.16231795_16231804dup, NC_000022.10:g.16231794_16231804dup, NC_000022.10:g.16231793_16231804dup, NC_000022.10:g.16231792_16231804dup, NC_000022.10:g.16231791_16231804dup, NC_000022.10:g.16231790_16231804dup, NC_000022.10:g.16231789_16231804dup, NC_000022.10:g.16231788_16231804dup, NC_000022.10:g.16231787_16231804dup, NC_000022.10:g.16231786_16231804dup, NC_000022.10:g.16231785_16231804dup, NC_000022.10:g.16231784_16231804dup, NC_000022.10:g.16231783_16231804dup, NC_000022.10:g.16231782_16231804dup, NC_000022.10:g.16231781_16231804dup, NC_000022.10:g.16231780_16231804dup, NC_000022.10:g.16231804_16231805insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.16231804_16231805insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.16231804_16231805insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.16231804_16231805insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.16231804_16231805insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.16231804_16231805insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.16231804_16231805insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.16231804_16231805insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.16231804_16231805insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.16231804_16231805insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.16231804_16231805insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.16231804_16231805insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.16231804_16231805insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
14.
rs1491306474 has merged into rs1381336299 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTTT
[Show Flanks]
- Chromosome:
- 22:15745896
(GRCh38)
22:16232067
(GRCh37)
- Canonical SPDI:
- NC_000022.11:15745894:TTT:T,NC_000022.11:15745894:TTT:TT,NC_000022.11:15745894:TTT:TTTTT
- Gene:
- PSLNR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000618/60
(GnomAD)
- HGVS:
15.
rs1491246827 has merged into rs1475360120 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 22:15745256
(GRCh38)
22:16232707
(GRCh37)
- Canonical SPDI:
- NC_000022.11:15745254:TGT:T
- Gene:
- PSLNR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000022/3
(GnomAD)
- HGVS:
16.
rs1491220069 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 22:15745874
(GRCh38)
22:16232088
(GRCh37)
- Canonical SPDI:
- NC_000022.11:15745874:C:CC
- Gene:
- PSLNR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.00012/5
(GnomAD)
- HGVS:
17.
rs1491171987 has merged into rs1435742774 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,TTTT
[Show Flanks]
- Chromosome:
- 22:15745962
(GRCh38)
22:16232001
(GRCh37)
- Canonical SPDI:
- NC_000022.11:15745960:TTT:T,NC_000022.11:15745960:TTT:TTTTT
- Gene:
- PSLNR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000146/17
(GnomAD)
-=0.08679/159
(Korea1K)
-=0.102345/2462
(TOMMO)
- HGVS:
18.
rs1491135525 has merged into rs1395385226 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 22:15745113
(GRCh38)
22:16232852
(GRCh37)
- Canonical SPDI:
- NC_000022.11:15745109:TCTCT:TCT
- Gene:
- PSLNR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCT=0.000169/2
(
ALFA)
-=0.000093/13
(GnomAD)
-=0.006004/11
(Korea1K)
AG=0.997613/16720
(TOMMO)
- HGVS:
19.
rs1491074563 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTT
[Show Flanks]
- Chromosome:
- 22:15745880
(GRCh38)
22:16232078
(GRCh37)
- Canonical SPDI:
- NC_000022.11:15745880:TTCTT:TTCTTCTT
- Gene:
- PSLNR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTCTTCTT=0.00008/1
(
ALFA)
TTC=0.00075/31
(GnomAD)
- HGVS:
20.
rs1491046524 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 22:15745971
(GRCh38)
22:16231991
(GRCh37)
- Canonical SPDI:
- NC_000022.11:15745970:CT:
- Gene:
- PSLNR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00004/4
(GnomAD)
- HGVS: