Links from Gene
Items: 1 to 20 of 7059
1.
rs1491539645 has merged into rs67522937 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACACACACACA>-,CA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- X:120438707
(GRCh38)
X:119572562
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- LAMP2 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACA=0./0
(
ALFA)
CACA=0.00848/32
(1000Genomes)
-=0.13534/391
(ALSPAC)
- HGVS:
NC_000023.11:g.120438693CA[7], NC_000023.11:g.120438693CA[8], NC_000023.11:g.120438693CA[11], NC_000023.11:g.120438693CA[12], NC_000023.11:g.120438693CA[13], NC_000023.11:g.120438693CA[14], NC_000023.11:g.120438693CA[15], NC_000023.11:g.120438693CA[16], NC_000023.11:g.120438693CA[17], NC_000023.11:g.120438693CA[18], NC_000023.11:g.120438693CA[19], NC_000023.11:g.120438693CA[21], NC_000023.11:g.120438693CA[22], NC_000023.11:g.120438693CA[23], NC_000023.11:g.120438693CA[24], NC_000023.11:g.120438693CA[25], NC_000023.11:g.120438693CA[26], NC_000023.10:g.119572548CA[7], NC_000023.10:g.119572548CA[8], NC_000023.10:g.119572548CA[11], NC_000023.10:g.119572548CA[12], NC_000023.10:g.119572548CA[13], NC_000023.10:g.119572548CA[14], NC_000023.10:g.119572548CA[15], NC_000023.10:g.119572548CA[16], NC_000023.10:g.119572548CA[17], NC_000023.10:g.119572548CA[18], NC_000023.10:g.119572548CA[19], NC_000023.10:g.119572548CA[21], NC_000023.10:g.119572548CA[22], NC_000023.10:g.119572548CA[23], NC_000023.10:g.119572548CA[24], NC_000023.10:g.119572548CA[25], NC_000023.10:g.119572548CA[26], NG_007995.1:g.35618TG[7], NG_007995.1:g.35618TG[8], NG_007995.1:g.35618TG[11], NG_007995.1:g.35618TG[12], NG_007995.1:g.35618TG[13], NG_007995.1:g.35618TG[14], NG_007995.1:g.35618TG[15], NG_007995.1:g.35618TG[16], NG_007995.1:g.35618TG[17], NG_007995.1:g.35618TG[18], NG_007995.1:g.35618TG[19], NG_007995.1:g.35618TG[21], NG_007995.1:g.35618TG[22], NG_007995.1:g.35618TG[23], NG_007995.1:g.35618TG[24], NG_007995.1:g.35618TG[25], NG_007995.1:g.35618TG[26], NM_013995.2:c.*422TG[7], NM_013995.2:c.*422TG[8], NM_013995.2:c.*422TG[11], NM_013995.2:c.*422TG[12], NM_013995.2:c.*422TG[13], NM_013995.2:c.*422TG[14], NM_013995.2:c.*422TG[15], NM_013995.2:c.*422TG[16], NM_013995.2:c.*422TG[17], NM_013995.2:c.*422TG[18], NM_013995.2:c.*422TG[19], NM_013995.2:c.*422TG[21], NM_013995.2:c.*422TG[22], NM_013995.2:c.*422TG[23], NM_013995.2:c.*422TG[24], NM_013995.2:c.*422TG[25], NM_013995.2:c.*422TG[26]
2.
rs1491489878 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATA>-,TATATATA
[Show Flanks]
- Chromosome:
- X:120450930
(GRCh38)
X:119584785
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120450923:TATATATATATA:TATATA,NC_000023.11:120450923:TATATATATATA:TATATATATATATA
- Gene:
- LAMP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATATA=0./0
(
ALFA)
TA=0.00002/2
(GnomAD)
- HGVS:
3.
rs1491425301 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- X:120438692
(GRCh38)
X:119572547
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120438691:TC:
- Gene:
- LAMP2 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00073/16
(TOMMO)
- HGVS:
4.
rs1491400358 has merged into rs60129285 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA
[Show Flanks]
- Chromosome:
- X:120432942
(GRCh38)
X:119566797
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120432928:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:120432928:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:120432928:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:120432928:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:120432928:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- LAMP2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0.00019/2
(
ALFA)
-=0.45/18
(GENOME_DK)
- HGVS:
NC_000023.11:g.120432942_120432944del, NC_000023.11:g.120432943_120432944del, NC_000023.11:g.120432944del, NC_000023.11:g.120432944dup, NC_000023.11:g.120432943_120432944dup, NC_000023.10:g.119566797_119566799del, NC_000023.10:g.119566798_119566799del, NC_000023.10:g.119566799del, NC_000023.10:g.119566799dup, NC_000023.10:g.119566798_119566799dup, NG_007995.1:g.41419_41421del, NG_007995.1:g.41420_41421del, NG_007995.1:g.41421del, NG_007995.1:g.41421dup, NG_007995.1:g.41420_41421dup
5.
rs1491306564 has merged into rs916102893 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- X:120466850
(GRCh38)
X:119600705
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120466840:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000023.11:120466840:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:120466840:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:120466840:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:120466840:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:120466840:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:120466840:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:120466840:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:120466840:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:120466840:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:120466840:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:120466840:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:120466840:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LAMP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.000359/95
(TOPMED)
- HGVS:
NC_000023.11:g.120466850_120466859del, NC_000023.11:g.120466851_120466859del, NC_000023.11:g.120466852_120466859del, NC_000023.11:g.120466854_120466859del, NC_000023.11:g.120466855_120466859del, NC_000023.11:g.120466856_120466859del, NC_000023.11:g.120466857_120466859del, NC_000023.11:g.120466858_120466859del, NC_000023.11:g.120466859del, NC_000023.11:g.120466859dup, NC_000023.11:g.120466858_120466859dup, NC_000023.11:g.120466857_120466859dup, NC_000023.11:g.120466856_120466859dup, NC_000023.10:g.119600705_119600714del, NC_000023.10:g.119600706_119600714del, NC_000023.10:g.119600707_119600714del, NC_000023.10:g.119600709_119600714del, NC_000023.10:g.119600710_119600714del, NC_000023.10:g.119600711_119600714del, NC_000023.10:g.119600712_119600714del, NC_000023.10:g.119600713_119600714del, NC_000023.10:g.119600714del, NC_000023.10:g.119600714dup, NC_000023.10:g.119600713_119600714dup, NC_000023.10:g.119600712_119600714dup, NC_000023.10:g.119600711_119600714dup, NG_007995.1:g.7500_7509del, NG_007995.1:g.7501_7509del, NG_007995.1:g.7502_7509del, NG_007995.1:g.7504_7509del, NG_007995.1:g.7505_7509del, NG_007995.1:g.7506_7509del, NG_007995.1:g.7507_7509del, NG_007995.1:g.7508_7509del, NG_007995.1:g.7509del, NG_007995.1:g.7509dup, NG_007995.1:g.7508_7509dup, NG_007995.1:g.7507_7509dup, NG_007995.1:g.7506_7509dup
8.
rs1490821826 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:120442403
(GRCh38)
X:119576258
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120442402:T:C
- Gene:
- LAMP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
9.
rs1490448572 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- X:120431023
(GRCh38)
X:119564878
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120431022:T:A
- Gene:
- LAMP2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.00001/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
10.
rs1490441376 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- X:120452735
(GRCh38)
X:119586590
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120452734:G:
- Gene:
- LAMP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00132/104
(GnomAD)
-=0.00244/31
(TOMMO)
- HGVS:
11.
rs1490425149 has merged into rs34279521 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA
[Show Flanks]
- Chromosome:
- X:120454241
(GRCh38)
X:119588096
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120454227:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:120454227:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:120454227:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:120454227:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:120454227:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- LAMP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0.0002/2
(
ALFA)
-=0.3793/1432
(1000Genomes)
-=0.3943/1139
(ALSPAC)
-=0.4132/1532
(TWINSUK)
- HGVS:
NC_000023.11:g.120454241_120454243del, NC_000023.11:g.120454242_120454243del, NC_000023.11:g.120454243del, NC_000023.11:g.120454243dup, NC_000023.11:g.120454242_120454243dup, NC_000023.10:g.119588096_119588098del, NC_000023.10:g.119588097_119588098del, NC_000023.10:g.119588098del, NC_000023.10:g.119588098dup, NC_000023.10:g.119588097_119588098dup, NG_007995.1:g.20120_20122del, NG_007995.1:g.20121_20122del, NG_007995.1:g.20122del, NG_007995.1:g.20122dup, NG_007995.1:g.20121_20122dup
12.
rs1490382617 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:120444120
(GRCh38)
X:119577975
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120444119:G:A
- Gene:
- LAMP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.00001/1
(GnomAD)
- HGVS:
13.
rs1490274235 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:120452303
(GRCh38)
X:119586158
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120452302:T:C
- Gene:
- LAMP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490074313 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:120440320
(GRCh38)
X:119574175
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120440319:G:A
- Gene:
- LAMP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/2
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
16.
rs1490016426 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- X:120470336
(GRCh38)
X:119604191
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120470335:G:A,NC_000023.11:120470335:G:T
- Gene:
- LAMP2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.00001/1
(GnomAD)
T=0.001369/4
(KOREAN)
- HGVS:
17.
rs1489896543 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:120441165
(GRCh38)
X:119575020
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120441164:T:C
- Gene:
- LAMP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000013/1
(GnomAD)
- HGVS:
18.
rs1489802659 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- X:120465305
(GRCh38)
X:119599160
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120465304:T:A
- Gene:
- LAMP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00014/3
(TOMMO)
- HGVS:
19.
rs1489731000 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:120427315
(GRCh38)
X:119561170
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120427314:C:T
- Gene:
- LAMP2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency
- MAF:
T=0.00001/1
(GnomAD)
- HGVS:
20.
rs1489601715 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- X:120439630
(GRCh38)
X:119573485
(GRCh37)
- Canonical SPDI:
- NC_000023.11:120439625:ATATAT:ATAT
- Gene:
- LAMP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ATAT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS: