Links from Gene
Items: 1 to 20 of 1000
1.
rs1491585476 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 19:4245368
(GRCh38)
19:4245366
(GRCh37)
- Canonical SPDI:
- NC_000019.10:4245368:C:CC
- Gene:
- YJU2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.000008/1
(GnomAD)
- HGVS:
2.
rs1491526024 has merged into rs534029383 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:4245376
(GRCh38)
19:4245373
(GRCh37)
- Canonical SPDI:
- NC_000019.10:4245371:TTTTTTTTTTTTTTT:TTTT,NC_000019.10:4245371:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:4245371:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:4245371:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:4245371:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:4245371:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:4245371:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:4245371:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:4245371:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:4245371:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:4245371:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- YJU2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000019.10:g.4245376_4245386del, NC_000019.10:g.4245381_4245386del, NC_000019.10:g.4245382_4245386del, NC_000019.10:g.4245383_4245386del, NC_000019.10:g.4245384_4245386del, NC_000019.10:g.4245385_4245386del, NC_000019.10:g.4245386del, NC_000019.10:g.4245386dup, NC_000019.10:g.4245385_4245386dup, NC_000019.10:g.4245384_4245386dup, NC_000019.10:g.4245383_4245386dup, NC_000019.9:g.4245373_4245383del, NC_000019.9:g.4245378_4245383del, NC_000019.9:g.4245379_4245383del, NC_000019.9:g.4245380_4245383del, NC_000019.9:g.4245381_4245383del, NC_000019.9:g.4245382_4245383del, NC_000019.9:g.4245383del, NC_000019.9:g.4245383dup, NC_000019.9:g.4245382_4245383dup, NC_000019.9:g.4245381_4245383dup, NC_000019.9:g.4245380_4245383dup
3.
rs1491436885 has merged into rs368146793 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:4256179
(GRCh38)
19:4256176
(GRCh37)
- Canonical SPDI:
- NC_000019.10:4256169:AAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:4256169:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:4256169:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:4256169:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:4256169:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:4256169:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:4256169:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:4256169:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:4256169:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:4256169:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:4256169:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
- Gene:
- YJU2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.4256179_4256182del, NC_000019.10:g.4256180_4256182del, NC_000019.10:g.4256181_4256182del, NC_000019.10:g.4256182del, NC_000019.10:g.4256182dup, NC_000019.10:g.4256181_4256182dup, NC_000019.10:g.4256180_4256182dup, NC_000019.10:g.4256179_4256182dup, NC_000019.10:g.4256178_4256182dup, NC_000019.10:g.4256177_4256182dup, NC_000019.10:g.4256176_4256182dup, NC_000019.9:g.4256176_4256179del, NC_000019.9:g.4256177_4256179del, NC_000019.9:g.4256178_4256179del, NC_000019.9:g.4256179del, NC_000019.9:g.4256179dup, NC_000019.9:g.4256178_4256179dup, NC_000019.9:g.4256177_4256179dup, NC_000019.9:g.4256176_4256179dup, NC_000019.9:g.4256175_4256179dup, NC_000019.9:g.4256174_4256179dup, NC_000019.9:g.4256173_4256179dup
4.
rs1491345452 has merged into rs35998855 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTATTATTTATTTAACTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTCTTTCTTTTCCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:4269572
(GRCh38)
19:4269569
(GRCh37)
- Canonical SPDI:
- NC_000019.10:4269562:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:4269562:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:4269562:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:4269562:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:4269562:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:4269562:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:4269562:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:4269562:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:4269562:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:4269562:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4269562:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4269562:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4269562:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4269562:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4269562:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4269562:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4269562:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTATTATTTATTTAACTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4269562:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4269562:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4269562:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTCTTTTCCTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4269562:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4269562:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4269562:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4269562:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4269562:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4269562:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4269562:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4269562:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:4269562:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- YJU2 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.4269572_4269584del, NC_000019.10:g.4269573_4269584del, NC_000019.10:g.4269575_4269584del, NC_000019.10:g.4269576_4269584del, NC_000019.10:g.4269577_4269584del, NC_000019.10:g.4269578_4269584del, NC_000019.10:g.4269580_4269584del, NC_000019.10:g.4269581_4269584del, NC_000019.10:g.4269583_4269584del, NC_000019.10:g.4269584del, NC_000019.10:g.4269584dup, NC_000019.10:g.4269583_4269584dup, NC_000019.10:g.4269582_4269584dup, NC_000019.10:g.4269563_4269584T[25]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.4269563_4269584T[25]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.4269581_4269584dup, NC_000019.10:g.4269563_4269584T[26]ATT[2]TATTTAACTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.4269580_4269584dup, NC_000019.10:g.4269579_4269584dup, NC_000019.10:g.4269563_4269584T[28]CTTT[2]TCCTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.4269578_4269584dup, NC_000019.10:g.4269577_4269584dup, NC_000019.10:g.4269576_4269584dup, NC_000019.10:g.4269575_4269584dup, NC_000019.10:g.4269563_4269584T[32]CTTTT[2]T[19], NC_000019.10:g.4269573_4269584dup, NC_000019.10:g.4269568_4269584dup, NC_000019.10:g.4269584_4269585insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.4269584_4269585insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.4269569_4269581del, NC_000019.9:g.4269570_4269581del, NC_000019.9:g.4269572_4269581del, NC_000019.9:g.4269573_4269581del, NC_000019.9:g.4269574_4269581del, NC_000019.9:g.4269575_4269581del, NC_000019.9:g.4269577_4269581del, NC_000019.9:g.4269578_4269581del, NC_000019.9:g.4269580_4269581del, NC_000019.9:g.4269581del, NC_000019.9:g.4269581dup, NC_000019.9:g.4269580_4269581dup, NC_000019.9:g.4269579_4269581dup, NC_000019.9:g.4269560_4269581T[25]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.4269560_4269581T[25]CTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.4269578_4269581dup, NC_000019.9:g.4269560_4269581T[26]ATT[2]TATTTAACTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.4269577_4269581dup, NC_000019.9:g.4269576_4269581dup, NC_000019.9:g.4269560_4269581T[28]CTTT[2]TCCTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.4269575_4269581dup, NC_000019.9:g.4269574_4269581dup, NC_000019.9:g.4269573_4269581dup, NC_000019.9:g.4269572_4269581dup, NC_000019.9:g.4269560_4269581T[32]CTTTT[2]T[19], NC_000019.9:g.4269570_4269581dup, NC_000019.9:g.4269565_4269581dup, NC_000019.9:g.4269581_4269582insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.4269581_4269582insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
5.
rs1491312838 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,G
[Show Flanks]
- Chromosome:
- 19:4256170
(GRCh38)
19:4256168
(GRCh37)
- Canonical SPDI:
- NC_000019.10:4256170::C,NC_000019.10:4256170::G
- Gene:
- YJU2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
7.
rs1491193036 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 19:4245371
(GRCh38)
19:4245368
(GRCh37)
- Canonical SPDI:
- NC_000019.10:4245367:TCTCT:TCT
- Gene:
- YJU2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TCT=0./0
(
ALFA)
-=0.00016/1
(1000Genomes)
- HGVS:
8.
rs1491112899 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 19:4245372
(GRCh38)
19:4245370
(GRCh37)
- Canonical SPDI:
- NC_000019.10:4245372::C
- Gene:
- YJU2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00001/1
(GnomAD)
C=0.00004/1
(TOMMO)
- HGVS:
9.
rs1491085699 has merged into rs58736061 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:4255739
(GRCh38)
19:4255736
(GRCh37)
- Canonical SPDI:
- NC_000019.10:4255727:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:4255727:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:4255727:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:4255727:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:4255727:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:4255727:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:4255727:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:4255727:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:4255727:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:4255727:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:4255727:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:4255727:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:4255727:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- YJU2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.0225/112
(1000Genomes)
- HGVS:
NC_000019.10:g.4255739_4255749del, NC_000019.10:g.4255740_4255749del, NC_000019.10:g.4255741_4255749del, NC_000019.10:g.4255742_4255749del, NC_000019.10:g.4255743_4255749del, NC_000019.10:g.4255744_4255749del, NC_000019.10:g.4255745_4255749del, NC_000019.10:g.4255746_4255749del, NC_000019.10:g.4255747_4255749del, NC_000019.10:g.4255748_4255749del, NC_000019.10:g.4255749del, NC_000019.10:g.4255749dup, NC_000019.10:g.4255748_4255749dup, NC_000019.9:g.4255736_4255746del, NC_000019.9:g.4255737_4255746del, NC_000019.9:g.4255738_4255746del, NC_000019.9:g.4255739_4255746del, NC_000019.9:g.4255740_4255746del, NC_000019.9:g.4255741_4255746del, NC_000019.9:g.4255742_4255746del, NC_000019.9:g.4255743_4255746del, NC_000019.9:g.4255744_4255746del, NC_000019.9:g.4255745_4255746del, NC_000019.9:g.4255746del, NC_000019.9:g.4255746dup, NC_000019.9:g.4255745_4255746dup
10.
rs1491073776 has merged into rs1555725229 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 19:4256194
(GRCh38)
19:4256191
(GRCh37)
- Canonical SPDI:
- NC_000019.10:4256181:ATATATATATATATATATATATATAT:ATATATATATAT,NC_000019.10:4256181:ATATATATATATATATATATATATAT:ATATATATATATAT,NC_000019.10:4256181:ATATATATATATATATATATATATAT:ATATATATATATATAT,NC_000019.10:4256181:ATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000019.10:4256181:ATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000019.10:4256181:ATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000019.10:4256181:ATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000019.10:4256181:ATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000019.10:4256181:ATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000019.10:4256181:ATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000019.10:4256181:ATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000019.10:4256181:ATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000019.10:4256181:ATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT
- Gene:
- YJU2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATAT=0./0
(
ALFA)
-=0.2836/1093
(ALSPAC)
-=0.28883/1071
(TWINSUK)
- HGVS:
NC_000019.10:g.4256182AT[6], NC_000019.10:g.4256182AT[7], NC_000019.10:g.4256182AT[8], NC_000019.10:g.4256182AT[9], NC_000019.10:g.4256182AT[10], NC_000019.10:g.4256182AT[11], NC_000019.10:g.4256182AT[12], NC_000019.10:g.4256182AT[14], NC_000019.10:g.4256182AT[15], NC_000019.10:g.4256182AT[16], NC_000019.10:g.4256182AT[17], NC_000019.10:g.4256182AT[18], NC_000019.10:g.4256182AT[20], NC_000019.9:g.4256179AT[6], NC_000019.9:g.4256179AT[7], NC_000019.9:g.4256179AT[8], NC_000019.9:g.4256179AT[9], NC_000019.9:g.4256179AT[10], NC_000019.9:g.4256179AT[11], NC_000019.9:g.4256179AT[12], NC_000019.9:g.4256179AT[14], NC_000019.9:g.4256179AT[15], NC_000019.9:g.4256179AT[16], NC_000019.9:g.4256179AT[17], NC_000019.9:g.4256179AT[18], NC_000019.9:g.4256179AT[20]
12.
rs1491003449 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:4252946
(GRCh38)
19:4252943
(GRCh37)
- Canonical SPDI:
- NC_000019.10:4252945:T:C
- Gene:
- YJU2 (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)
- HGVS:
13.
rs1490972891 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:4264249
(GRCh38)
19:4264246
(GRCh37)
- Canonical SPDI:
- NC_000019.10:4264248:G:A
- Gene:
- YJU2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000084/1
(
ALFA)
A=0./0
(GnomAD)
A=0.000464/8
(TOMMO)
A=0.001131/2
(Korea1K)
A=0.003772/11
(KOREAN)
- HGVS:
14.
rs1490649270 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:4259726
(GRCh38)
19:4259723
(GRCh37)
- Canonical SPDI:
- NC_000019.10:4259725:C:A
- Gene:
- YJU2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
16.
rs1490550497 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:4246540
(GRCh38)
19:4246537
(GRCh37)
- Canonical SPDI:
- NC_000019.10:4246539:T:C
- Gene:
- YJU2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
17.
rs1490544704 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:4263771
(GRCh38)
19:4263768
(GRCh37)
- Canonical SPDI:
- NC_000019.10:4263770:T:C
- Gene:
- YJU2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/1
(GnomAD)
C=0.001558/26
(TOMMO)
C=0.002738/8
(KOREAN)
C=0.003279/21
(1000Genomes)
- HGVS:
18.
rs1490513764 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:4253289
(GRCh38)
19:4253286
(GRCh37)
- Canonical SPDI:
- NC_000019.10:4253288:A:G
- Gene:
- YJU2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490279060 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 19:4269567
(GRCh38)
19:4269564
(GRCh37)
- Canonical SPDI:
- NC_000019.10:4269566:T:A,NC_000019.10:4269566:T:G
- Gene:
- YJU2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000008/1
(GnomAD)
- HGVS:
20.
rs1490199802 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 19:4266812
(GRCh38)
19:4266809
(GRCh37)
- Canonical SPDI:
- NC_000019.10:4266811:C:G,NC_000019.10:4266811:C:T
- Gene:
- YJU2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS: