Links from Gene
Items: 1 to 20 of 1000
1.
rs1491533510 has merged into rs398025045 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:50945553
(GRCh38)
14:51412271
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:50945542:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PYGL (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
TTT=0.0445/165
(TWINSUK)
TTT=0.0571/220
(ALSPAC)
- HGVS:
NC_000014.9:g.50945553_50945558del, NC_000014.9:g.50945554_50945558del, NC_000014.9:g.50945556_50945558del, NC_000014.9:g.50945557_50945558del, NC_000014.9:g.50945558del, NC_000014.9:g.50945558dup, NC_000014.9:g.50945557_50945558dup, NC_000014.9:g.50945556_50945558dup, NC_000014.9:g.50945555_50945558dup, NC_000014.9:g.50945554_50945558dup, NC_000014.9:g.50945553_50945558dup, NC_000014.9:g.50945552_50945558dup, NC_000014.9:g.50945551_50945558dup, NC_000014.9:g.50945550_50945558dup, NC_000014.8:g.51412271_51412276del, NC_000014.8:g.51412272_51412276del, NC_000014.8:g.51412274_51412276del, NC_000014.8:g.51412275_51412276del, NC_000014.8:g.51412276del, NC_000014.8:g.51412276dup, NC_000014.8:g.51412275_51412276dup, NC_000014.8:g.51412274_51412276dup, NC_000014.8:g.51412273_51412276dup, NC_000014.8:g.51412272_51412276dup, NC_000014.8:g.51412271_51412276dup, NC_000014.8:g.51412270_51412276dup, NC_000014.8:g.51412269_51412276dup, NC_000014.8:g.51412268_51412276dup, NG_012796.1:g.3983_3988del, NG_012796.1:g.3984_3988del, NG_012796.1:g.3986_3988del, NG_012796.1:g.3987_3988del, NG_012796.1:g.3988del, NG_012796.1:g.3988dup, NG_012796.1:g.3987_3988dup, NG_012796.1:g.3986_3988dup, NG_012796.1:g.3985_3988dup, NG_012796.1:g.3984_3988dup, NG_012796.1:g.3983_3988dup, NG_012796.1:g.3982_3988dup, NG_012796.1:g.3981_3988dup, NG_012796.1:g.3980_3988dup
2.
rs1491499362 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 14:50945848
(GRCh38)
14:51412566
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50945846:ATA:A
- Gene:
- PYGL (Varview), LOC400212 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.00035/10
(TOMMO)
- HGVS:
3.
rs1491354244 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 14:50908388
(GRCh38)
14:51375106
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50908386:ATA:A
- Gene:
- PYGL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
4.
rs1491330702 has merged into rs35049468 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AACAAAACAAAACAA>-,AACAA,AACAAAACAA,AACAAAACAAAACAAAACAA,AACAAAACAAAACAAAACAAAACAA,AACAAAACAAAACAAAACAAAACAAAACAA,AACAAAACAAAACAAAACAAAACAAAACAAAACAA
[Show Flanks]
- Chromosome:
- 14:50942844
(GRCh38)
14:51409562
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50942822:AAACAAAACAAAACAAAACAAAACAAAACAAAACAA:AAACAAAACAAAACAAAACAA,NC_000014.9:50942822:AAACAAAACAAAACAAAACAAAACAAAACAAAACAA:AAACAAAACAAAACAAAACAAAACAA,NC_000014.9:50942822:AAACAAAACAAAACAAAACAAAACAAAACAAAACAA:AAACAAAACAAAACAAAACAAAACAAAACAA,NC_000014.9:50942822:AAACAAAACAAAACAAAACAAAACAAAACAAAACAA:AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAA,NC_000014.9:50942822:AAACAAAACAAAACAAAACAAAACAAAACAAAACAA:AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAA,NC_000014.9:50942822:AAACAAAACAAAACAAAACAAAACAAAACAAAACAA:AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAA,NC_000014.9:50942822:AAACAAAACAAAACAAAACAAAACAAAACAAAACAA:AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAA
- Gene:
- PYGL (Varview), LOC124903314 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAA=0./0
(
ALFA)
AAACA=0.4143/1652
(1000Genomes)
- HGVS:
NC_000014.9:g.50942824AACAA[4], NC_000014.9:g.50942824AACAA[5], NC_000014.9:g.50942824AACAA[6], NC_000014.9:g.50942824AACAA[8], NC_000014.9:g.50942824AACAA[9], NC_000014.9:g.50942824AACAA[10], NC_000014.9:g.50942824AACAA[11], NC_000014.8:g.51409542AACAA[4], NC_000014.8:g.51409542AACAA[5], NC_000014.8:g.51409542AACAA[6], NC_000014.8:g.51409542AACAA[8], NC_000014.8:g.51409542AACAA[9], NC_000014.8:g.51409542AACAA[10], NC_000014.8:g.51409542AACAA[11], NG_012796.1:g.6674TGTTT[4], NG_012796.1:g.6674TGTTT[5], NG_012796.1:g.6674TGTTT[6], NG_012796.1:g.6674TGTTT[8], NG_012796.1:g.6674TGTTT[9], NG_012796.1:g.6674TGTTT[10], NG_012796.1:g.6674TGTTT[11]
5.
rs1491250030 has merged into rs1219336459 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGGGGGG>-,G,GG,GGG,GGGG,GGGGG,GGGGGG,GGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGG
[Show Flanks]
- Chromosome:
- 14:50946278
(GRCh38)
14:51412996
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50946267:GGGGGGGGGGGGGGGGG:GGGGGGGGGG,NC_000014.9:50946267:GGGGGGGGGGGGGGGGG:GGGGGGGGGGG,NC_000014.9:50946267:GGGGGGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000014.9:50946267:GGGGGGGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000014.9:50946267:GGGGGGGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000014.9:50946267:GGGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000014.9:50946267:GGGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000014.9:50946267:GGGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000014.9:50946267:GGGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG,NC_000014.9:50946267:GGGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGG,NC_000014.9:50946267:GGGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGG,NC_000014.9:50946267:GGGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGG
- Gene:
- PYGL (Varview), LOC400212 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.50946278_50946284del, NC_000014.9:g.50946279_50946284del, NC_000014.9:g.50946280_50946284del, NC_000014.9:g.50946281_50946284del, NC_000014.9:g.50946282_50946284del, NC_000014.9:g.50946283_50946284del, NC_000014.9:g.50946284del, NC_000014.9:g.50946284dup, NC_000014.9:g.50946281_50946284dup, NC_000014.9:g.50946280_50946284dup, NC_000014.9:g.50946277_50946284dup, NC_000014.9:g.50946274_50946284dup, NC_000014.8:g.51412996_51413002del, NC_000014.8:g.51412997_51413002del, NC_000014.8:g.51412998_51413002del, NC_000014.8:g.51412999_51413002del, NC_000014.8:g.51413000_51413002del, NC_000014.8:g.51413001_51413002del, NC_000014.8:g.51413002del, NC_000014.8:g.51413002dup, NC_000014.8:g.51412999_51413002dup, NC_000014.8:g.51412998_51413002dup, NC_000014.8:g.51412995_51413002dup, NC_000014.8:g.51412992_51413002dup, NG_012796.1:g.3257_3263del, NG_012796.1:g.3258_3263del, NG_012796.1:g.3259_3263del, NG_012796.1:g.3260_3263del, NG_012796.1:g.3261_3263del, NG_012796.1:g.3262_3263del, NG_012796.1:g.3263del, NG_012796.1:g.3263dup, NG_012796.1:g.3260_3263dup, NG_012796.1:g.3259_3263dup, NG_012796.1:g.3256_3263dup, NG_012796.1:g.3253_3263dup
6.
rs1491226228 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 14:50931786
(GRCh38)
14:51398505
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50931786:C:CC
- Gene:
- PYGL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
8.
rs1491224361 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 14:50920862
(GRCh38)
14:51387581
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50920862:TTTTTT:TTTTTTT
- Gene:
- PYGL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
9.
rs1491153457 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 14:50931787
(GRCh38)
14:51398505
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50931785:ACA:A
- Gene:
- PYGL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000224/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000223/1
(Estonian)
- HGVS:
10.
rs1491147910 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 14:50920862
(GRCh38)
14:51387580
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50920861:CT:
- Gene:
- PYGL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
11.
rs1491144454 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GT,GTT,GTTT,GTTTTC,GTTTTCTAGAAAAATCT,GTTTTCTAGAAAAATCTTAGTATACT
[Show Flanks]
- Chromosome:
- 14:50945847
(GRCh38)
14:51412566
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50945847::GT,NC_000014.9:50945847::GTT,NC_000014.9:50945847::GTTT,NC_000014.9:50945847::GTTTTC,NC_000014.9:50945847::GTTTTCTAGAAAAATCT,NC_000014.9:50945847::GTTTTCTAGAAAAATCTTAGTATACT
- Gene:
- PYGL (Varview), LOC400212 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTTTTC=0.00738/33
(
ALFA)
GTTTTC=0.00048/8
(TOMMO)
- HGVS:
NC_000014.9:g.50945847_50945848insGT, NC_000014.9:g.50945847_50945848insGTT, NC_000014.9:g.50945847_50945848insGTTT, NC_000014.9:g.50945847_50945848insGTTTTC, NC_000014.9:g.50945847_50945848insGTTTTCTAGAAAAATCT, NC_000014.9:g.50945847_50945848insGTTTTCTAGAAAAATCTTAGTATACT, NC_000014.8:g.51412565_51412566insGT, NC_000014.8:g.51412565_51412566insGTT, NC_000014.8:g.51412565_51412566insGTTT, NC_000014.8:g.51412565_51412566insGTTTTC, NC_000014.8:g.51412565_51412566insGTTTTCTAGAAAAATCT, NC_000014.8:g.51412565_51412566insGTTTTCTAGAAAAATCTTAGTATACT, NG_012796.1:g.3683_3684insAC, NG_012796.1:g.3683_3684insAAC, NG_012796.1:g.3683_3684insAAAC, NG_012796.1:g.3683_3684insGAAAAC, NG_012796.1:g.3683_3684insAGATTTTTCTAGAAAAC, NG_012796.1:g.3683_3684insAGTATACTAAGATTTTTCTAGAAAAC
12.
rs1491083073 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 14:50931157
(GRCh38)
14:51397876
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50931157:T:TT
- Gene:
- PYGL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000024/3
(GnomAD)
- HGVS:
13.
rs1490920580 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:50921939
(GRCh38)
14:51388657
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50921938:G:C
- Gene:
- PYGL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490884185 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:50924454
(GRCh38)
14:51391172
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50924453:T:C
- Gene:
- PYGL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490616187 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:50912552
(GRCh38)
14:51379270
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50912551:A:G
- Gene:
- PYGL (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:
16.
rs1490608658 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 14:50942985
(GRCh38)
14:51409703
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50942984:A:C,NC_000014.9:50942984:A:G
- Gene:
- PYGL (Varview), LOC124903314 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000029/4
(GnomAD)
G=0.000102/27
(TOPMED)
G=0.000156/1
(1000Genomes)
G=0.001092/2
(Korea1K)
G=0.003422/10
(KOREAN)
- HGVS:
17.
rs1490419226 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:50937582
(GRCh38)
14:51404300
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50937581:T:G
- Gene:
- PYGL (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:
18.
rs1490388781 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:50922051
(GRCh38)
14:51388769
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50922050:G:A
- Gene:
- PYGL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000023/6
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
19.
rs1490364891 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 14:50921008
(GRCh38)
14:51387726
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50921007:G:A,NC_000014.9:50921007:G:T
- Gene:
- PYGL (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000014.9:g.50921008G>A, NC_000014.9:g.50921008G>T, NC_000014.8:g.51387726G>A, NC_000014.8:g.51387726G>T, NG_012796.1:g.28523C>T, NG_012796.1:g.28523C>A, NM_002863.5:c.720C>T, NM_002863.5:c.720C>A, NM_002863.4:c.720C>T, NM_002863.4:c.720C>A, NM_001163940.2:c.618C>T, NM_001163940.2:c.618C>A, NM_001163940.1:c.618C>T, NM_001163940.1:c.618C>A, NP_002854.3:p.Asn240Lys, NP_001157412.1:p.Asn206Lys
20.
rs1490311110 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:50944059
(GRCh38)
14:51410777
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50944058:C:T
- Gene:
- PYGL (Varview), LOC124903314 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: