Links from Gene
Items: 1 to 20 of 1000
2.
rs1491488000 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTATAT
[Show Flanks]
- Chromosome:
- 15:72209397
(GRCh38)
15:72501739
(GRCh37)
- Canonical SPDI:
- NC_000015.10:72209397:TATAT:TATATGTATAT
- Gene:
- PKM (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TATATGTATAT=0./0
(
ALFA)
TATATG=0.000008/2
(TOPMED)
- HGVS:
3.
rs1491475290 has merged into rs1182751717 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATATATATATATATATATATATATATATAT>-,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 15:72209405
(GRCh38)
15:72501746
(GRCh37)
- Canonical SPDI:
- NC_000015.10:72209396:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATAT,NC_000015.10:72209396:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATAT,NC_000015.10:72209396:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATAT,NC_000015.10:72209396:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATAT,NC_000015.10:72209396:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000015.10:72209396:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000015.10:72209396:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000015.10:72209396:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000015.10:72209396:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000015.10:72209396:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000015.10:72209396:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000015.10:72209396:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000015.10:72209396:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000015.10:72209396:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000015.10:72209396:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000015.10:72209396:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:72209396:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:72209396:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:72209396:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:72209396:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:72209396:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:72209396:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:72209396:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:72209396:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:72209396:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000015.10:72209396:ATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
- Gene:
- PKM (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATAT=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
- HGVS:
NC_000015.10:g.72209397AT[4], NC_000015.10:g.72209397AT[6], NC_000015.10:g.72209397AT[7], NC_000015.10:g.72209397AT[8], NC_000015.10:g.72209397AT[9], NC_000015.10:g.72209397AT[10], NC_000015.10:g.72209397AT[11], NC_000015.10:g.72209397AT[12], NC_000015.10:g.72209397AT[13], NC_000015.10:g.72209397AT[14], NC_000015.10:g.72209397AT[15], NC_000015.10:g.72209397AT[16], NC_000015.10:g.72209397AT[17], NC_000015.10:g.72209397AT[18], NC_000015.10:g.72209397AT[19], NC_000015.10:g.72209397AT[20], NC_000015.10:g.72209397AT[21], NC_000015.10:g.72209397AT[23], NC_000015.10:g.72209397AT[24], NC_000015.10:g.72209397AT[25], NC_000015.10:g.72209397AT[26], NC_000015.10:g.72209397AT[32], NC_000015.10:g.72209397AT[34], NC_000015.10:g.72209397AT[35], NC_000015.10:g.72209397AT[36], NC_000015.10:g.72209397AT[37], NC_000015.9:g.72501738AT[4], NC_000015.9:g.72501738AT[6], NC_000015.9:g.72501738AT[7], NC_000015.9:g.72501738AT[8], NC_000015.9:g.72501738AT[9], NC_000015.9:g.72501738AT[10], NC_000015.9:g.72501738AT[11], NC_000015.9:g.72501738AT[12], NC_000015.9:g.72501738AT[13], NC_000015.9:g.72501738AT[14], NC_000015.9:g.72501738AT[15], NC_000015.9:g.72501738AT[16], NC_000015.9:g.72501738AT[17], NC_000015.9:g.72501738AT[18], NC_000015.9:g.72501738AT[19], NC_000015.9:g.72501738AT[20], NC_000015.9:g.72501738AT[21], NC_000015.9:g.72501738AT[23], NC_000015.9:g.72501738AT[24], NC_000015.9:g.72501738AT[25], NC_000015.9:g.72501738AT[26], NC_000015.9:g.72501738AT[32], NC_000015.9:g.72501738AT[34], NC_000015.9:g.72501738AT[35], NC_000015.9:g.72501738AT[36], NC_000015.9:g.72501738AT[37], NG_052978.1:g.27185AT[4], NG_052978.1:g.27185AT[6], NG_052978.1:g.27185AT[7], NG_052978.1:g.27185AT[8], NG_052978.1:g.27185AT[9], NG_052978.1:g.27185AT[10], NG_052978.1:g.27185AT[11], NG_052978.1:g.27185AT[12], NG_052978.1:g.27185AT[13], NG_052978.1:g.27185AT[14], NG_052978.1:g.27185AT[15], NG_052978.1:g.27185AT[16], NG_052978.1:g.27185AT[17], NG_052978.1:g.27185AT[18], NG_052978.1:g.27185AT[19], NG_052978.1:g.27185AT[20], NG_052978.1:g.27185AT[21], NG_052978.1:g.27185AT[23], NG_052978.1:g.27185AT[24], NG_052978.1:g.27185AT[25], NG_052978.1:g.27185AT[26], NG_052978.1:g.27185AT[32], NG_052978.1:g.27185AT[34], NG_052978.1:g.27185AT[35], NG_052978.1:g.27185AT[36], NG_052978.1:g.27185AT[37]
4.
rs1491400483 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A
[Show Flanks]
- Chromosome:
- 15:72199016
(GRCh38)
15:72491357
(GRCh37)
- Canonical SPDI:
- NC_000015.10:72199013:AAAA:AA,NC_000015.10:72199013:AAAA:AAA
- Gene:
- PKM (Varview), GRAMD2A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
-=0.000043/6
(GnomAD)
- HGVS:
5.
rs1491289642 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 15:72217308
(GRCh38)
15:72509649
(GRCh37)
- Canonical SPDI:
- NC_000015.10:72217306:AGA:A
- Gene:
- PKM (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000214/3
(
ALFA)
-=0./0
(TWINSUK)
-=0.000157/22
(GnomAD)
-=0.000212/56
(TOPMED)
-=0.000259/1
(ALSPAC)
- HGVS:
6.
rs1491273265 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 15:72205120
(GRCh38)
15:72497461
(GRCh37)
- Canonical SPDI:
- NC_000015.10:72205118:TAT:T
- Gene:
- PKM (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000546/1
(Korea1K)
-=0.000708/12
(TOMMO)
- HGVS:
7.
rs1491178573 has merged into rs200644761 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 15:72223935
(GRCh38)
15:72516276
(GRCh37)
- Canonical SPDI:
- NC_000015.10:72223934:T:
- Gene:
- PKM (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.164983/98
(NorthernSweden)
-=0.18921/26153
(GnomAD)
-=0.2/8
(GENOME_DK)
-=0.208874/805
(ALSPAC)
-=0.212425/212
(GoNL)
-=0.219525/814
(TWINSUK)
-=0.238419/1194
(1000Genomes)
-=0.335374/5620
(TOMMO)
- HGVS:
8.
rs1491161314 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 15:72209358
(GRCh38)
15:72501699
(GRCh37)
- Canonical SPDI:
- NC_000015.10:72209355:GAGA:GA
- Gene:
- PKM (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GAGA=0./0
(
ALFA)
-=0.000034/4
(GnomAD)
- HGVS:
9.
rs1491121253 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 15:72223934
(GRCh38)
15:72516275
(GRCh37)
- Canonical SPDI:
- NC_000015.10:72223933:AT:
- Gene:
- PKM (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.002885/47
(
ALFA)
-=0.000354/6
(TOMMO)
-=0.001562/10
(1000Genomes)
-=0.002633/354
(GnomAD)
-=0.019126/35
(Korea1K)
-=0.183705/708
(ALSPAC)
-=0.193096/716
(TWINSUK)
- HGVS:
10.
rs1491080365 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 15:72227775
(GRCh38)
15:72520116
(GRCh37)
- Canonical SPDI:
- NC_000015.10:72227773:ACA:A
- Gene:
- PKM (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00422/50
(
ALFA)
-=0.0269/422
(TOMMO)
-=0.12435/3933
(GnomAD)
- HGVS:
11.
rs1491064441 has merged into rs11432818 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 15:72223933
(GRCh38)
15:72516274
(GRCh37)
- Canonical SPDI:
- NC_000015.10:72223918:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:72223918:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:72223918:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:72223918:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:72223918:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:72223918:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
- Gene:
- PKM (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.04619/178
(ALSPAC)
-=0.04881/181
(TWINSUK)
-=0.26014/154
(NorthernSweden)
A=0.35323/1769
(1000Genomes)
A=0.39401/6539
(TOMMO)
A=0.45/18
(GENOME_DK)
-=0.5/4
(KOREAN)
- HGVS:
NC_000015.10:g.72223933_72223934del, NC_000015.10:g.72223934del, NC_000015.10:g.72223934dup, NC_000015.10:g.72223933_72223934dup, NC_000015.10:g.72223932_72223934dup, NC_000015.10:g.72223931_72223934dup, NC_000015.9:g.72516274_72516275del, NC_000015.9:g.72516275del, NC_000015.9:g.72516275dup, NC_000015.9:g.72516274_72516275dup, NC_000015.9:g.72516273_72516275dup, NC_000015.9:g.72516272_72516275dup, NG_052978.1:g.12705_12706del, NG_052978.1:g.12706del, NG_052978.1:g.12706dup, NG_052978.1:g.12705_12706dup, NG_052978.1:g.12704_12706dup, NG_052978.1:g.12703_12706dup
12.
rs1491043373 has merged into rs10656443 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:72228387
(GRCh38)
15:72520728
(GRCh37)
- Canonical SPDI:
- NC_000015.10:72228376:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:72228376:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:72228376:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:72228376:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:72228376:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:72228376:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:72228376:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:72228376:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:72228376:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:72228376:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:72228376:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:72228376:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:72228376:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:72228376:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:72228376:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:72228376:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:72228376:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:72228376:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:72228376:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:72228376:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PKM (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000015.10:g.72228387_72228395del, NC_000015.10:g.72228388_72228395del, NC_000015.10:g.72228389_72228395del, NC_000015.10:g.72228390_72228395del, NC_000015.10:g.72228391_72228395del, NC_000015.10:g.72228392_72228395del, NC_000015.10:g.72228393_72228395del, NC_000015.10:g.72228394_72228395del, NC_000015.10:g.72228395del, NC_000015.10:g.72228395dup, NC_000015.10:g.72228394_72228395dup, NC_000015.10:g.72228393_72228395dup, NC_000015.10:g.72228392_72228395dup, NC_000015.10:g.72228391_72228395dup, NC_000015.10:g.72228390_72228395dup, NC_000015.10:g.72228389_72228395dup, NC_000015.10:g.72228388_72228395dup, NC_000015.10:g.72228387_72228395dup, NC_000015.10:g.72228386_72228395dup, NC_000015.10:g.72228383_72228395dup, NC_000015.9:g.72520728_72520736del, NC_000015.9:g.72520729_72520736del, NC_000015.9:g.72520730_72520736del, NC_000015.9:g.72520731_72520736del, NC_000015.9:g.72520732_72520736del, NC_000015.9:g.72520733_72520736del, NC_000015.9:g.72520734_72520736del, NC_000015.9:g.72520735_72520736del, NC_000015.9:g.72520736del, NC_000015.9:g.72520736dup, NC_000015.9:g.72520735_72520736dup, NC_000015.9:g.72520734_72520736dup, NC_000015.9:g.72520733_72520736dup, NC_000015.9:g.72520732_72520736dup, NC_000015.9:g.72520731_72520736dup, NC_000015.9:g.72520730_72520736dup, NC_000015.9:g.72520729_72520736dup, NC_000015.9:g.72520728_72520736dup, NC_000015.9:g.72520727_72520736dup, NC_000015.9:g.72520724_72520736dup, NG_052978.1:g.8240_8248del, NG_052978.1:g.8241_8248del, NG_052978.1:g.8242_8248del, NG_052978.1:g.8243_8248del, NG_052978.1:g.8244_8248del, NG_052978.1:g.8245_8248del, NG_052978.1:g.8246_8248del, NG_052978.1:g.8247_8248del, NG_052978.1:g.8248del, NG_052978.1:g.8248dup, NG_052978.1:g.8247_8248dup, NG_052978.1:g.8246_8248dup, NG_052978.1:g.8245_8248dup, NG_052978.1:g.8244_8248dup, NG_052978.1:g.8243_8248dup, NG_052978.1:g.8242_8248dup, NG_052978.1:g.8241_8248dup, NG_052978.1:g.8240_8248dup, NG_052978.1:g.8239_8248dup, NG_052978.1:g.8236_8248dup
13.
rs1491021366 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTTTT
[Show Flanks]
- Chromosome:
- 15:72224924
(GRCh38)
15:72517266
(GRCh37)
- Canonical SPDI:
- NC_000015.10:72224924:TTTT:TTTTCTTTT
- Gene:
- PKM (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTCTTTT=0./0
(
ALFA)
TTTTC=0.125/20
(GnomAD)
- HGVS:
14.
rs1490807061 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 15:72207663
(GRCh38)
15:72500004
(GRCh37)
- Canonical SPDI:
- NC_000015.10:72207660:CACA:CA
- Gene:
- PKM (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACA=0./0
(
ALFA)
-=0.000021/3
(GnomAD)
-=0.000038/10
(TOPMED)
- HGVS:
15.
rs1490758104 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 15:72223489
(GRCh38)
15:72515830
(GRCh37)
- Canonical SPDI:
- NC_000015.10:72223488:C:G,NC_000015.10:72223488:C:T
- Gene:
- PKM (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.001369/4
(KOREAN)
- HGVS:
16.
rs1490596492 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 15:72214730
(GRCh38)
15:72507071
(GRCh37)
- Canonical SPDI:
- NC_000015.10:72214729:G:C,NC_000015.10:72214729:G:T
- Gene:
- PKM (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490587284 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 15:72199440
(GRCh38)
15:72491781
(GRCh37)
- Canonical SPDI:
- NC_000015.10:72199439:A:C,NC_000015.10:72199439:A:G
- Gene:
- PKM (Varview), GRAMD2A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000021/3
(GnomAD)
C=0.000058/8
(GnomAD_exomes)
- HGVS:
NC_000015.10:g.72199440A>C, NC_000015.10:g.72199440A>G, NC_000015.9:g.72491781A>C, NC_000015.9:g.72491781A>G, NG_052978.1:g.37185T>G, NG_052978.1:g.37185T>C, NM_002654.6:c.*210T>G, NM_002654.6:c.*210T>C, NM_002654.5:c.*210T>G, NM_002654.5:c.*210T>C, NM_002654.4:c.*210T>G, NM_002654.4:c.*210T>C, NM_182470.4:c.*210T>G, NM_182470.4:c.*210T>C, NM_182470.3:c.*210T>G, NM_182470.3:c.*210T>C, NM_182470.2:c.*210T>G, NM_182470.2:c.*210T>C, NM_182471.4:c.*210T>G, NM_182471.4:c.*210T>C, NM_182471.3:c.*210T>G, NM_182471.3:c.*210T>C, NM_182471.2:c.*210T>G, NM_182471.2:c.*210T>C, NM_001206796.3:c.*210T>G, NM_001206796.3:c.*210T>C, NM_001206796.2:c.*210T>G, NM_001206796.2:c.*210T>C, NM_001206796.1:c.*210T>G, NM_001206796.1:c.*210T>C, NM_001206798.3:c.*210T>G, NM_001206798.3:c.*210T>C, NM_001206798.2:c.*210T>G, NM_001206798.2:c.*210T>C, NM_001206798.1:c.*210T>G, NM_001206798.1:c.*210T>C, NM_001206797.3:c.*210T>G, NM_001206797.3:c.*210T>C, NM_001206797.2:c.*210T>G, NM_001206797.2:c.*210T>C, NM_001206797.1:c.*210T>G, NM_001206797.1:c.*210T>C, NM_001206799.2:c.*210T>G, NM_001206799.2:c.*210T>C, NM_001206799.1:c.*210T>G, NM_001206799.1:c.*210T>C, NM_001316318.2:c.*210T>G, NM_001316318.2:c.*210T>C, NM_001316318.1:c.*210T>G, NM_001316318.1:c.*210T>C, NM_001411081.1:c.*210T>G, NM_001411081.1:c.*210T>C, XM_005254445.6:c.*210T>G, XM_005254445.6:c.*210T>C, XM_005254445.5:c.*210T>G, XM_005254445.5:c.*210T>C, XM_005254445.4:c.*210T>G, XM_005254445.4:c.*210T>C, XM_005254445.3:c.*210T>G, XM_005254445.3:c.*210T>C, XM_005254445.2:c.*210T>G, XM_005254445.2:c.*210T>C, XM_005254445.1:c.*210T>G, XM_005254445.1:c.*210T>C, XM_005254443.2:c.*210T>G, XM_005254443.2:c.*210T>C, XM_005254443.1:c.*210T>G, XM_005254443.1:c.*210T>C, XM_006720570.2:c.*210T>G, XM_006720570.2:c.*210T>C, XM_011521670.2:c.*210T>G, XM_011521670.2:c.*210T>C, XM_011521670.1:c.*210T>G, XM_011521670.1:c.*210T>C, XM_047432665.1:c.*210T>G, XM_047432665.1:c.*210T>C, XM_047432664.1:c.*210T>G, XM_047432664.1:c.*210T>C, XM_047432666.1:c.*210T>G, XM_047432666.1:c.*210T>C, XM_047432663.1:c.*210T>G, XM_047432663.1:c.*210T>C, XM_047432662.1:c.*210T>G, XM_047432662.1:c.*210T>C
18.
rs1490582325 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:72219909
(GRCh38)
15:72512250
(GRCh37)
- Canonical SPDI:
- NC_000015.10:72219908:A:G
- Gene:
- PKM (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000084/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
20.
rs1490220686 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:72219589
(GRCh38)
15:72511930
(GRCh37)
- Canonical SPDI:
- NC_000015.10:72219588:G:C
- Gene:
- PKM (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS: