Links from Gene
Items: 1 to 20 of 22308
2.
rs1491467957 has merged into rs754657064 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 7:35134579
(GRCh38)
7:35174191
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- DPY19L2P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACA=0./0
(
ALFA)
- HGVS:
NC_000007.14:g.35134563CA[8], NC_000007.14:g.35134563CA[9], NC_000007.14:g.35134563CA[10], NC_000007.14:g.35134563CA[11], NC_000007.14:g.35134563CA[12], NC_000007.14:g.35134563CA[13], NC_000007.14:g.35134563CA[14], NC_000007.14:g.35134563CA[15], NC_000007.14:g.35134563CA[16], NC_000007.14:g.35134563CA[18], NC_000007.14:g.35134563CA[19], NC_000007.14:g.35134563CA[20], NC_000007.14:g.35134563CA[21], NC_000007.14:g.35134563CA[22], NC_000007.14:g.35134563CA[23], NC_000007.14:g.35134563CA[24], NC_000007.14:g.35134563CA[25], NC_000007.13:g.35174175CA[8], NC_000007.13:g.35174175CA[9], NC_000007.13:g.35174175CA[10], NC_000007.13:g.35174175CA[11], NC_000007.13:g.35174175CA[12], NC_000007.13:g.35174175CA[13], NC_000007.13:g.35174175CA[14], NC_000007.13:g.35174175CA[15], NC_000007.13:g.35174175CA[16], NC_000007.13:g.35174175CA[18], NC_000007.13:g.35174175CA[19], NC_000007.13:g.35174175CA[20], NC_000007.13:g.35174175CA[21], NC_000007.13:g.35174175CA[22], NC_000007.13:g.35174175CA[23], NC_000007.13:g.35174175CA[24], NC_000007.13:g.35174175CA[25]
4.
rs1491427406 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 7:35179161
(GRCh38)
7:35218773
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35179160:TA:
- Gene:
- DPY19L2P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000253/3
(
ALFA)
-=0.000071/2
(TOMMO)
-=0.000156/1
(1000Genomes)
-=0.00034/47
(GnomAD)
- HGVS:
5.
rs1491359560 has merged into rs1159472235 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:35124315
(GRCh38)
7:35163927
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35124304:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:35124304:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:35124304:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:35124304:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:35124304:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:35124304:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:35124304:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:35124304:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:35124304:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:35124304:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35124304:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35124304:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35124304:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35124304:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35124304:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35124304:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35124304:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35124304:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35124304:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35124304:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35124304:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35124304:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35124304:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:35124304:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- DPY19L2P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.35124315_35124322del, NC_000007.14:g.35124316_35124322del, NC_000007.14:g.35124318_35124322del, NC_000007.14:g.35124319_35124322del, NC_000007.14:g.35124320_35124322del, NC_000007.14:g.35124321_35124322del, NC_000007.14:g.35124322del, NC_000007.14:g.35124322dup, NC_000007.14:g.35124321_35124322dup, NC_000007.14:g.35124320_35124322dup, NC_000007.14:g.35124319_35124322dup, NC_000007.14:g.35124318_35124322dup, NC_000007.14:g.35124317_35124322dup, NC_000007.14:g.35124316_35124322dup, NC_000007.14:g.35124315_35124322dup, NC_000007.14:g.35124314_35124322dup, NC_000007.14:g.35124313_35124322dup, NC_000007.14:g.35124312_35124322dup, NC_000007.14:g.35124311_35124322dup, NC_000007.14:g.35124310_35124322dup, NC_000007.14:g.35124309_35124322dup, NC_000007.14:g.35124308_35124322dup, NC_000007.14:g.35124305_35124322dup, NC_000007.14:g.35124322_35124323insTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.35163927_35163934del, NC_000007.13:g.35163928_35163934del, NC_000007.13:g.35163930_35163934del, NC_000007.13:g.35163931_35163934del, NC_000007.13:g.35163932_35163934del, NC_000007.13:g.35163933_35163934del, NC_000007.13:g.35163934del, NC_000007.13:g.35163934dup, NC_000007.13:g.35163933_35163934dup, NC_000007.13:g.35163932_35163934dup, NC_000007.13:g.35163931_35163934dup, NC_000007.13:g.35163930_35163934dup, NC_000007.13:g.35163929_35163934dup, NC_000007.13:g.35163928_35163934dup, NC_000007.13:g.35163927_35163934dup, NC_000007.13:g.35163926_35163934dup, NC_000007.13:g.35163925_35163934dup, NC_000007.13:g.35163924_35163934dup, NC_000007.13:g.35163923_35163934dup, NC_000007.13:g.35163922_35163934dup, NC_000007.13:g.35163921_35163934dup, NC_000007.13:g.35163920_35163934dup, NC_000007.13:g.35163917_35163934dup, NC_000007.13:g.35163934_35163935insTTTTTTTTTTTTTTTTTTT
7.
rs1491275700 has merged into rs879905657 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT,TTT
[Show Flanks]
- Chromosome:
- 7:35158656
(GRCh38)
7:35198268
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35158655:TTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:35158655:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:35158655:TTTTTTTTTTT:TTTTTTTTTTTTT
- Gene:
- DPY19L2P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0.000124/2
(
ALFA)
TT=0.000004/1
(TOPMED)
- HGVS:
8.
rs1491261099 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 7:35134561
(GRCh38)
7:35174173
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35134560:AA:
- Gene:
- DPY19L2P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.0434/161
(TWINSUK)
-=0.0454/175
(ALSPAC)
- HGVS:
9.
rs1491232191 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 7:35124305
(GRCh38)
7:35163918
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35124305::C
- Gene:
- DPY19L2P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00001/1
(GnomAD)
- HGVS:
10.
rs1491231331 has merged into rs59413359 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 7:35118347
(GRCh38)
7:35157959
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35118331:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000007.14:35118331:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000007.14:35118331:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000007.14:35118331:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35118331:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35118331:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35118331:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35118331:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35118331:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35118331:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:35118331:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- DPY19L2P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.000038/10
(TOPMED)
- HGVS:
NC_000007.14:g.35118333GT[7], NC_000007.14:g.35118333GT[8], NC_000007.14:g.35118333GT[9], NC_000007.14:g.35118333GT[10], NC_000007.14:g.35118333GT[11], NC_000007.14:g.35118333GT[13], NC_000007.14:g.35118333GT[14], NC_000007.14:g.35118333GT[15], NC_000007.14:g.35118333GT[16], NC_000007.14:g.35118333GT[17], NC_000007.14:g.35118333GT[22], NC_000007.13:g.35157945GT[7], NC_000007.13:g.35157945GT[8], NC_000007.13:g.35157945GT[9], NC_000007.13:g.35157945GT[10], NC_000007.13:g.35157945GT[11], NC_000007.13:g.35157945GT[13], NC_000007.13:g.35157945GT[14], NC_000007.13:g.35157945GT[15], NC_000007.13:g.35157945GT[16], NC_000007.13:g.35157945GT[17], NC_000007.13:g.35157945GT[22]
11.
rs1491184479 has merged into rs143718247 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT
[Show Flanks]
- Chromosome:
- 7:35179160
(GRCh38)
7:35218772
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35179156:TTTTT:TTT,NC_000007.14:35179156:TTTTT:TTTT,NC_000007.14:35179156:TTTTT:TTTTTT
- Gene:
- DPY19L2P1 (Varview)
- Functional Consequence:
- splice_acceptor_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTT=0./0
(
ALFA)
T=0.000332/88
(TOPMED)
-=0.186961/932
(1000Genomes)
-=0.25/10
(GENOME_DK)
-=0.255/153
(NorthernSweden)
-=0.299353/1110
(TWINSUK)
-=0.30877/1190
(ALSPAC)
-=0.331663/331
(GoNL)
- HGVS:
12.
rs1491133796 has merged into rs56687913 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:35113156
(GRCh38)
7:35152768
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35113143:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:35113143:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:35113143:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:35113143:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:35113143:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:35113143:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:35113143:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:35113143:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:35113143:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:35113143:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35113143:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35113143:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35113143:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35113143:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35113143:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35113143:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35113143:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35113143:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35113143:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35113143:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35113143:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35113143:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35113143:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:35113143:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- DPY19L2P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.35113156_35113170del, NC_000007.14:g.35113157_35113170del, NC_000007.14:g.35113158_35113170del, NC_000007.14:g.35113159_35113170del, NC_000007.14:g.35113160_35113170del, NC_000007.14:g.35113161_35113170del, NC_000007.14:g.35113162_35113170del, NC_000007.14:g.35113163_35113170del, NC_000007.14:g.35113164_35113170del, NC_000007.14:g.35113165_35113170del, NC_000007.14:g.35113166_35113170del, NC_000007.14:g.35113167_35113170del, NC_000007.14:g.35113168_35113170del, NC_000007.14:g.35113169_35113170del, NC_000007.14:g.35113170del, NC_000007.14:g.35113170dup, NC_000007.14:g.35113169_35113170dup, NC_000007.14:g.35113168_35113170dup, NC_000007.14:g.35113167_35113170dup, NC_000007.14:g.35113165_35113170dup, NC_000007.14:g.35113164_35113170dup, NC_000007.14:g.35113163_35113170dup, NC_000007.14:g.35113162_35113170dup, NC_000007.14:g.35113160_35113170dup, NC_000007.13:g.35152768_35152782del, NC_000007.13:g.35152769_35152782del, NC_000007.13:g.35152770_35152782del, NC_000007.13:g.35152771_35152782del, NC_000007.13:g.35152772_35152782del, NC_000007.13:g.35152773_35152782del, NC_000007.13:g.35152774_35152782del, NC_000007.13:g.35152775_35152782del, NC_000007.13:g.35152776_35152782del, NC_000007.13:g.35152777_35152782del, NC_000007.13:g.35152778_35152782del, NC_000007.13:g.35152779_35152782del, NC_000007.13:g.35152780_35152782del, NC_000007.13:g.35152781_35152782del, NC_000007.13:g.35152782del, NC_000007.13:g.35152782dup, NC_000007.13:g.35152781_35152782dup, NC_000007.13:g.35152780_35152782dup, NC_000007.13:g.35152779_35152782dup, NC_000007.13:g.35152777_35152782dup, NC_000007.13:g.35152776_35152782dup, NC_000007.13:g.35152775_35152782dup, NC_000007.13:g.35152774_35152782dup, NC_000007.13:g.35152772_35152782dup
13.
rs1491124460 has merged into rs754657064 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 7:35134579
(GRCh38)
7:35174191
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:35134561:ACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- DPY19L2P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACA=0./0
(
ALFA)
- HGVS:
NC_000007.14:g.35134563CA[8], NC_000007.14:g.35134563CA[9], NC_000007.14:g.35134563CA[10], NC_000007.14:g.35134563CA[11], NC_000007.14:g.35134563CA[12], NC_000007.14:g.35134563CA[13], NC_000007.14:g.35134563CA[14], NC_000007.14:g.35134563CA[15], NC_000007.14:g.35134563CA[16], NC_000007.14:g.35134563CA[18], NC_000007.14:g.35134563CA[19], NC_000007.14:g.35134563CA[20], NC_000007.14:g.35134563CA[21], NC_000007.14:g.35134563CA[22], NC_000007.14:g.35134563CA[23], NC_000007.14:g.35134563CA[24], NC_000007.14:g.35134563CA[25], NC_000007.13:g.35174175CA[8], NC_000007.13:g.35174175CA[9], NC_000007.13:g.35174175CA[10], NC_000007.13:g.35174175CA[11], NC_000007.13:g.35174175CA[12], NC_000007.13:g.35174175CA[13], NC_000007.13:g.35174175CA[14], NC_000007.13:g.35174175CA[15], NC_000007.13:g.35174175CA[16], NC_000007.13:g.35174175CA[18], NC_000007.13:g.35174175CA[19], NC_000007.13:g.35174175CA[20], NC_000007.13:g.35174175CA[21], NC_000007.13:g.35174175CA[22], NC_000007.13:g.35174175CA[23], NC_000007.13:g.35174175CA[24], NC_000007.13:g.35174175CA[25]
14.
rs1491097202 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 7:35100870
(GRCh38)
7:35140482
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35100869:CT:
- Gene:
- DPY19L2P1 (Varview), LOC105375228 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000054/1
(
ALFA)
-=0.000023/6
(TOPMED)
-=0.000036/5
(GnomAD)
- HGVS:
15.
rs1491048562 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 7:35150293
(GRCh38)
7:35189905
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35150291:ATA:A
- Gene:
- DPY19L2P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000084/1
(
ALFA)
-=0.000035/1
(TOMMO)
-=0.0002/28
(GnomAD)
- HGVS:
16.
rs1490981798 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:35137235
(GRCh38)
7:35176847
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35137234:T:C
- Gene:
- DPY19L2P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
17.
rs1490975026 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:35084496
(GRCh38)
7:35124108
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35084495:T:C
- Gene:
- DPY19L2P1 (Varview), LOC105375228 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
18.
rs1490904344 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:35177205
(GRCh38)
7:35216817
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35177204:A:G
- Gene:
- DPY19L2P1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000029/4
(GnomAD)
G=0.000042/11
(TOPMED)
G=0.000342/1
(KOREAN)
G=0.000546/1
(Korea1K)
G=0.000814/14
(TOMMO)
- HGVS:
19.
rs1490903243 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATCTGAGTGTATT>-
[Show Flanks]
- Chromosome:
- 7:35085583
(GRCh38)
7:35125195
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35085581:TTATCTGAGTGTATT:T
- Gene:
- DPY19L2P1 (Varview), LOC105375228 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
- HGVS:
20.
rs1490855633 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 7:35160496
(GRCh38)
7:35200108
(GRCh37)
- Canonical SPDI:
- NC_000007.14:35160495:G:C
- Gene:
- DPY19L2P1 (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: