Links from Gene
Items: 1 to 20 of 1175
2.
rs1491246380 has merged into rs1201360215 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 7:56115405
(GRCh38)
7:56183098
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
- Gene:
- NUPR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.56115395AT[5], NC_000007.14:g.56115395AT[6], NC_000007.14:g.56115395AT[7], NC_000007.14:g.56115395AT[8], NC_000007.14:g.56115395AT[9], NC_000007.14:g.56115395AT[10], NC_000007.14:g.56115395AT[11], NC_000007.14:g.56115395AT[12], NC_000007.14:g.56115395AT[13], NC_000007.14:g.56115395AT[14], NC_000007.14:g.56115395AT[15], NC_000007.14:g.56115395AT[16], NC_000007.14:g.56115395AT[18], NC_000007.14:g.56115395AT[19], NC_000007.14:g.56115395AT[20], NC_000007.14:g.56115395AT[21], NC_000007.14:g.56115395AT[22], NC_000007.14:g.56115395AT[23], NC_000007.14:g.56115395AT[24], NC_000007.14:g.56115395AT[25], NC_000007.14:g.56115395AT[26], NC_000007.14:g.56115395AT[27], NC_000007.14:g.56115395AT[29], NC_000007.13:g.56183088AT[5], NC_000007.13:g.56183088AT[6], NC_000007.13:g.56183088AT[7], NC_000007.13:g.56183088AT[8], NC_000007.13:g.56183088AT[9], NC_000007.13:g.56183088AT[10], NC_000007.13:g.56183088AT[11], NC_000007.13:g.56183088AT[12], NC_000007.13:g.56183088AT[13], NC_000007.13:g.56183088AT[14], NC_000007.13:g.56183088AT[15], NC_000007.13:g.56183088AT[16], NC_000007.13:g.56183088AT[18], NC_000007.13:g.56183088AT[19], NC_000007.13:g.56183088AT[20], NC_000007.13:g.56183088AT[21], NC_000007.13:g.56183088AT[22], NC_000007.13:g.56183088AT[23], NC_000007.13:g.56183088AT[24], NC_000007.13:g.56183088AT[25], NC_000007.13:g.56183088AT[26], NC_000007.13:g.56183088AT[27], NC_000007.13:g.56183088AT[29]
4.
rs1489438999 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:56118331
(GRCh38)
7:56186024
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56118330:A:G
- Gene:
- NUPR2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1489090385 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CAC
[Show Flanks]
- Chromosome:
- 7:56118355
(GRCh38)
7:56186049
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56118355:ACCAC:ACCACCAC
- Gene:
- NUPR2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
ACCACCAC=0.00008/1
(
ALFA)
- HGVS:
6.
rs1488671330 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:56115410
(GRCh38)
7:56183103
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56115409:T:C
- Gene:
- NUPR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00016/1
(1000Genomes)
C=0.011/28
(KOREAN)
- HGVS:
7.
rs1488645656 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:56116101
(GRCh38)
7:56183794
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56116100:C:T
- Gene:
- NUPR2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD_exomes)
- HGVS:
8.
rs1488523440 has merged into rs762996310 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:56114235
(GRCh38)
7:56181928
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:56114226:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NUPR2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
-=0.45/18
(GENOME_DK)
- HGVS:
NC_000007.14:g.56114235_56114250del, NC_000007.14:g.56114240_56114250del, NC_000007.14:g.56114241_56114250del, NC_000007.14:g.56114242_56114250del, NC_000007.14:g.56114243_56114250del, NC_000007.14:g.56114244_56114250del, NC_000007.14:g.56114245_56114250del, NC_000007.14:g.56114246_56114250del, NC_000007.14:g.56114247_56114250del, NC_000007.14:g.56114248_56114250del, NC_000007.14:g.56114249_56114250del, NC_000007.14:g.56114250del, NC_000007.14:g.56114250dup, NC_000007.14:g.56114249_56114250dup, NC_000007.14:g.56114248_56114250dup, NC_000007.14:g.56114247_56114250dup, NC_000007.14:g.56114246_56114250dup, NC_000007.14:g.56114245_56114250dup, NC_000007.14:g.56114244_56114250dup, NC_000007.14:g.56114243_56114250dup, NC_000007.14:g.56114242_56114250dup, NC_000007.14:g.56114241_56114250dup, NC_000007.14:g.56114240_56114250dup, NC_000007.14:g.56114239_56114250dup, NC_000007.14:g.56114238_56114250dup, NC_000007.14:g.56114237_56114250dup, NC_000007.14:g.56114236_56114250dup, NC_000007.14:g.56114235_56114250dup, NC_000007.14:g.56114233_56114250dup, NC_000007.14:g.56114232_56114250dup, NC_000007.14:g.56114231_56114250dup, NC_000007.14:g.56114230_56114250dup, NC_000007.14:g.56114229_56114250dup, NC_000007.14:g.56114228_56114250dup, NC_000007.14:g.56114250_56114251insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.56114250_56114251insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.56114250_56114251insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.56114250_56114251insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.56181928_56181943del, NC_000007.13:g.56181933_56181943del, NC_000007.13:g.56181934_56181943del, NC_000007.13:g.56181935_56181943del, NC_000007.13:g.56181936_56181943del, NC_000007.13:g.56181937_56181943del, NC_000007.13:g.56181938_56181943del, NC_000007.13:g.56181939_56181943del, NC_000007.13:g.56181940_56181943del, NC_000007.13:g.56181941_56181943del, NC_000007.13:g.56181942_56181943del, NC_000007.13:g.56181943del, NC_000007.13:g.56181943dup, NC_000007.13:g.56181942_56181943dup, NC_000007.13:g.56181941_56181943dup, NC_000007.13:g.56181940_56181943dup, NC_000007.13:g.56181939_56181943dup, NC_000007.13:g.56181938_56181943dup, NC_000007.13:g.56181937_56181943dup, NC_000007.13:g.56181936_56181943dup, NC_000007.13:g.56181935_56181943dup, NC_000007.13:g.56181934_56181943dup, NC_000007.13:g.56181933_56181943dup, NC_000007.13:g.56181932_56181943dup, NC_000007.13:g.56181931_56181943dup, NC_000007.13:g.56181930_56181943dup, NC_000007.13:g.56181929_56181943dup, NC_000007.13:g.56181928_56181943dup, NC_000007.13:g.56181926_56181943dup, NC_000007.13:g.56181925_56181943dup, NC_000007.13:g.56181924_56181943dup, NC_000007.13:g.56181923_56181943dup, NC_000007.13:g.56181922_56181943dup, NC_000007.13:g.56181921_56181943dup, NC_000007.13:g.56181943_56181944insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.56181943_56181944insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.56181943_56181944insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.56181943_56181944insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
9.
rs1488448189 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 7:56118292
(GRCh38)
7:56185985
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56118291:T:A
- Gene:
- NUPR2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1488291187 has merged into rs1201360215 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 7:56115405
(GRCh38)
7:56183098
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000007.14:56115394:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
- Gene:
- NUPR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.56115395AT[5], NC_000007.14:g.56115395AT[6], NC_000007.14:g.56115395AT[7], NC_000007.14:g.56115395AT[8], NC_000007.14:g.56115395AT[9], NC_000007.14:g.56115395AT[10], NC_000007.14:g.56115395AT[11], NC_000007.14:g.56115395AT[12], NC_000007.14:g.56115395AT[13], NC_000007.14:g.56115395AT[14], NC_000007.14:g.56115395AT[15], NC_000007.14:g.56115395AT[16], NC_000007.14:g.56115395AT[18], NC_000007.14:g.56115395AT[19], NC_000007.14:g.56115395AT[20], NC_000007.14:g.56115395AT[21], NC_000007.14:g.56115395AT[22], NC_000007.14:g.56115395AT[23], NC_000007.14:g.56115395AT[24], NC_000007.14:g.56115395AT[25], NC_000007.14:g.56115395AT[26], NC_000007.14:g.56115395AT[27], NC_000007.14:g.56115395AT[29], NC_000007.13:g.56183088AT[5], NC_000007.13:g.56183088AT[6], NC_000007.13:g.56183088AT[7], NC_000007.13:g.56183088AT[8], NC_000007.13:g.56183088AT[9], NC_000007.13:g.56183088AT[10], NC_000007.13:g.56183088AT[11], NC_000007.13:g.56183088AT[12], NC_000007.13:g.56183088AT[13], NC_000007.13:g.56183088AT[14], NC_000007.13:g.56183088AT[15], NC_000007.13:g.56183088AT[16], NC_000007.13:g.56183088AT[18], NC_000007.13:g.56183088AT[19], NC_000007.13:g.56183088AT[20], NC_000007.13:g.56183088AT[21], NC_000007.13:g.56183088AT[22], NC_000007.13:g.56183088AT[23], NC_000007.13:g.56183088AT[24], NC_000007.13:g.56183088AT[25], NC_000007.13:g.56183088AT[26], NC_000007.13:g.56183088AT[27], NC_000007.13:g.56183088AT[29]
11.
rs1488239106 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 7:56115706
(GRCh38)
7:56183399
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56115705:G:C
- Gene:
- NUPR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
12.
rs1487887907 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:56115137
(GRCh38)
7:56182830
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56115136:C:T
- Gene:
- NUPR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
13.
rs1487298174 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GTG>-
[Show Flanks]
- Chromosome:
- 7:56115447
(GRCh38)
7:56183140
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56115446:GTG:
- Gene:
- NUPR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.00002/1
(GnomAD)
- HGVS:
14.
rs1487289656 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:56114976
(GRCh38)
7:56182669
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56114975:C:T
- Gene:
- NUPR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1486651276 has merged into rs59426127 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 7:56115452
(GRCh38)
7:56183145
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56115429:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:56115429:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:56115429:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:56115429:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:56115429:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:56115429:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:56115429:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:56115429:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:56115429:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:56115429:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:56115429:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:56115429:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:56115429:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:56115429:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:56115429:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:56115429:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:56115429:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000007.14:56115429:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- NUPR2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
- HGVS:
NC_000007.14:g.56115430TG[11], NC_000007.14:g.56115430TG[12], NC_000007.14:g.56115430TG[13], NC_000007.14:g.56115430TG[14], NC_000007.14:g.56115430TG[15], NC_000007.14:g.56115430TG[16], NC_000007.14:g.56115430TG[17], NC_000007.14:g.56115430TG[18], NC_000007.14:g.56115430TG[19], NC_000007.14:g.56115430TG[20], NC_000007.14:g.56115430TG[21], NC_000007.14:g.56115430TG[22], NC_000007.14:g.56115430TG[23], NC_000007.14:g.56115430TG[25], NC_000007.14:g.56115430TG[26], NC_000007.14:g.56115430TG[27], NC_000007.14:g.56115430TG[28], NC_000007.14:g.56115430TG[29], NC_000007.13:g.56183123TG[11], NC_000007.13:g.56183123TG[12], NC_000007.13:g.56183123TG[13], NC_000007.13:g.56183123TG[14], NC_000007.13:g.56183123TG[15], NC_000007.13:g.56183123TG[16], NC_000007.13:g.56183123TG[17], NC_000007.13:g.56183123TG[18], NC_000007.13:g.56183123TG[19], NC_000007.13:g.56183123TG[20], NC_000007.13:g.56183123TG[21], NC_000007.13:g.56183123TG[22], NC_000007.13:g.56183123TG[23], NC_000007.13:g.56183123TG[25], NC_000007.13:g.56183123TG[26], NC_000007.13:g.56183123TG[27], NC_000007.13:g.56183123TG[28], NC_000007.13:g.56183123TG[29]
16.
rs1485811606 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 7:56116864
(GRCh38)
7:56184557
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56116863:A:T
- Gene:
- NUPR2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
19.
rs1484129533 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:56114965
(GRCh38)
7:56182658
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56114964:T:C
- Gene:
- NUPR2 (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:
20.
rs1483984948 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 7:56116024
(GRCh38)
7:56183717
(GRCh37)
- Canonical SPDI:
- NC_000007.14:56116023:G:A,NC_000007.14:56116023:G:T
- Gene:
- NUPR2 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS: