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Select item 14913413301.

rs1491341330 has merged into rs58578983 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:96060638 (GRCh38)
10:97820395 (GRCh37)
Canonical SPDI:: NC_000010.11:96060627:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:96060627:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:96060627:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:96060627:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:96060627:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:96060627:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:96060627:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:96060627:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:96060627:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:96060627:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CCNJ (Varview), ENTPD1-AS1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.3926/1966 (1000Genomes)
HGVS:: NC_000010.11:g.96060638_96060643del, NC_000010.11:g.96060639_96060643del, NC_000010.11:g.96060640_96060643del, NC_000010.11:g.96060641_96060643del, NC_000010.11:g.96060642_96060643del, NC_000010.11:g.96060643del, NC_000010.11:g.96060643dup, NC_000010.11:g.96060642_96060643dup, NC_000010.11:g.96060641_96060643dup, NC_000010.11:g.96060634_96060643dup, NC_000010.10:g.97820395_97820400del, NC_000010.10:g.97820396_97820400del, NC_000010.10:g.97820397_97820400del, NC_000010.10:g.97820398_97820400del, NC_000010.10:g.97820399_97820400del, NC_000010.10:g.97820400del, NC_000010.10:g.97820400dup, NC_000010.10:g.97820399_97820400dup, NC_000010.10:g.97820398_97820400dup, NC_000010.10:g.97820391_97820400dup, NM_019084.5:c.*2397_*2402del, NM_019084.5:c.*2398_*2402del, NM_019084.5:c.*2399_*2402del, NM_019084.5:c.*2400_*2402del, NM_019084.5:c.*2401_*2402del, NM_019084.5:c.*2402del, NM_019084.5:c.*2402dup, NM_019084.5:c.*2401_*2402dup, NM_019084.5:c.*2400_*2402dup, NM_019084.5:c.*2393_*2402dup, NM_019084.4:c.*2397_*2402del, NM_019084.4:c.*2398_*2402del, NM_019084.4:c.*2399_*2402del, NM_019084.4:c.*2400_*2402del, NM_019084.4:c.*2401_*2402del, NM_019084.4:c.*2402del, NM_019084.4:c.*2402dup, NM_019084.4:c.*2401_*2402dup, NM_019084.4:c.*2400_*2402dup, NM_019084.4:c.*2393_*2402dup, XM_005269921.4:c.*2397_*2402del, XM_005269921.4:c.*2398_*2402del, XM_005269921.4:c.*2399_*2402del, XM_005269921.4:c.*2400_*2402del, XM_005269921.4:c.*2401_*2402del, XM_005269921.4:c.*2402del, XM_005269921.4:c.*2402dup, XM_005269921.4:c.*2401_*2402dup, XM_005269921.4:c.*2400_*2402dup, XM_005269921.4:c.*2393_*2402dup, XM_005269921.2:c.*2397_*2402del, XM_005269921.2:c.*2398_*2402del, XM_005269921.2:c.*2399_*2402del, XM_005269921.2:c.*2400_*2402del, XM_005269921.2:c.*2401_*2402del, XM_005269921.2:c.*2402del, XM_005269921.2:c.*2402dup, XM_005269921.2:c.*2401_*2402dup, XM_005269921.2:c.*2400_*2402dup, XM_005269921.2:c.*2393_*2402dup, XM_005269921.1:c.*2397_*2402del, XM_005269921.1:c.*2398_*2402del, XM_005269921.1:c.*2399_*2402del, XM_005269921.1:c.*2400_*2402del, XM_005269921.1:c.*2401_*2402del, XM_005269921.1:c.*2402del, XM_005269921.1:c.*2402dup, XM_005269921.1:c.*2401_*2402dup, XM_005269921.1:c.*2400_*2402dup, XM_005269921.1:c.*2393_*2402dup, XM_011539885.3:c.*2397_*2402del, XM_011539885.3:c.*2398_*2402del, XM_011539885.3:c.*2399_*2402del, XM_011539885.3:c.*2400_*2402del, XM_011539885.3:c.*2401_*2402del, XM_011539885.3:c.*2402del, XM_011539885.3:c.*2402dup, XM_011539885.3:c.*2401_*2402dup, XM_011539885.3:c.*2400_*2402dup, XM_011539885.3:c.*2393_*2402dup, XM_011539885.1:c.*2397_*2402del, XM_011539885.1:c.*2398_*2402del, XM_011539885.1:c.*2399_*2402del, XM_011539885.1:c.*2400_*2402del, XM_011539885.1:c.*2401_*2402del, XM_011539885.1:c.*2402del, XM_011539885.1:c.*2402dup, XM_011539885.1:c.*2401_*2402dup, XM_011539885.1:c.*2400_*2402dup, XM_011539885.1:c.*2393_*2402dup, XM_017016354.2:c.*2397_*2402del, XM_017016354.2:c.*2398_*2402del, XM_017016354.2:c.*2399_*2402del, XM_017016354.2:c.*2400_*2402del, XM_017016354.2:c.*2401_*2402del, XM_017016354.2:c.*2402del, XM_017016354.2:c.*2402dup, XM_017016354.2:c.*2401_*2402dup, XM_017016354.2:c.*2400_*2402dup, XM_017016354.2:c.*2393_*2402dup, XM_017016354.1:c.*2397_*2402del, XM_017016354.1:c.*2398_*2402del, XM_017016354.1:c.*2399_*2402del, XM_017016354.1:c.*2400_*2402del, XM_017016354.1:c.*2401_*2402del, XM_017016354.1:c.*2402del, XM_017016354.1:c.*2402dup, XM_017016354.1:c.*2401_*2402dup, XM_017016354.1:c.*2400_*2402dup, XM_017016354.1:c.*2393_*2402dup, XM_017016356.2:c.*2397_*2402del, XM_017016356.2:c.*2398_*2402del, XM_017016356.2:c.*2399_*2402del, XM_017016356.2:c.*2400_*2402del, XM_017016356.2:c.*2401_*2402del, XM_017016356.2:c.*2402del, XM_017016356.2:c.*2402dup, XM_017016356.2:c.*2401_*2402dup, XM_017016356.2:c.*2400_*2402dup, XM_017016356.2:c.*2393_*2402dup, XM_017016356.1:c.*2397_*2402del, XM_017016356.1:c.*2398_*2402del, XM_017016356.1:c.*2399_*2402del, XM_017016356.1:c.*2400_*2402del, XM_017016356.1:c.*2401_*2402del, XM_017016356.1:c.*2402del, XM_017016356.1:c.*2402dup, XM_017016356.1:c.*2401_*2402dup, XM_017016356.1:c.*2400_*2402dup, XM_017016356.1:c.*2393_*2402dup, NM_001134375.2:c.*2397_*2402del, NM_001134375.2:c.*2398_*2402del, NM_001134375.2:c.*2399_*2402del, NM_001134375.2:c.*2400_*2402del, NM_001134375.2:c.*2401_*2402del, NM_001134375.2:c.*2402del, NM_001134375.2:c.*2402dup, NM_001134375.2:c.*2401_*2402dup, NM_001134375.2:c.*2400_*2402dup, NM_001134375.2:c.*2393_*2402dup, NM_001134375.1:c.*2397_*2402del, NM_001134375.1:c.*2398_*2402del, NM_001134375.1:c.*2399_*2402del, NM_001134375.1:c.*2400_*2402del, NM_001134375.1:c.*2401_*2402del, NM_001134375.1:c.*2402del, NM_001134375.1:c.*2402dup, NM_001134375.1:c.*2401_*2402dup, NM_001134375.1:c.*2400_*2402dup, NM_001134375.1:c.*2393_*2402dup, NM_001134376.2:c.*2397_*2402del, NM_001134376.2:c.*2398_*2402del, NM_001134376.2:c.*2399_*2402del, NM_001134376.2:c.*2400_*2402del, NM_001134376.2:c.*2401_*2402del, NM_001134376.2:c.*2402del, NM_001134376.2:c.*2402dup, NM_001134376.2:c.*2401_*2402dup, NM_001134376.2:c.*2400_*2402dup, NM_001134376.2:c.*2393_*2402dup, NM_001134376.1:c.*2397_*2402del, NM_001134376.1:c.*2398_*2402del, NM_001134376.1:c.*2399_*2402del, NM_001134376.1:c.*2400_*2402del, NM_001134376.1:c.*2401_*2402del, NM_001134376.1:c.*2402del, NM_001134376.1:c.*2402dup, NM_001134376.1:c.*2401_*2402dup, NM_001134376.1:c.*2400_*2402dup, NM_001134376.1:c.*2393_*2402dup, XM_017016355.2:c.*2397_*2402del, XM_017016355.2:c.*2398_*2402del, XM_017016355.2:c.*2399_*2402del, XM_017016355.2:c.*2400_*2402del, XM_017016355.2:c.*2401_*2402del, XM_017016355.2:c.*2402del, XM_017016355.2:c.*2402dup, XM_017016355.2:c.*2401_*2402dup, XM_017016355.2:c.*2400_*2402dup, XM_017016355.2:c.*2393_*2402dup, XM_017016355.1:c.*2397_*2402del, XM_017016355.1:c.*2398_*2402del, XM_017016355.1:c.*2399_*2402del, XM_017016355.1:c.*2400_*2402del, XM_017016355.1:c.*2401_*2402del, XM_017016355.1:c.*2402del, XM_017016355.1:c.*2402dup, XM_017016355.1:c.*2401_*2402dup, XM_017016355.1:c.*2400_*2402dup, XM_017016355.1:c.*2393_*2402dup, XM_047425381.1:c.*2397_*2402del, XM_047425381.1:c.*2398_*2402del, XM_047425381.1:c.*2399_*2402del, XM_047425381.1:c.*2400_*2402del, XM_047425381.1:c.*2401_*2402del, XM_047425381.1:c.*2402del, XM_047425381.1:c.*2402dup, XM_047425381.1:c.*2401_*2402dup, XM_047425381.1:c.*2400_*2402dup, XM_047425381.1:c.*2393_*2402dup

Select item 14912280082.

rs1491228008 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:96049475 (GRCh38)
10:97809232 (GRCh37)
Canonical SPDI:: NC_000010.11:96049473:TCT:T
Gene:: CCNJ (Varview), ENTPD1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000008/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.96049475_96049476del, NC_000010.10:g.97809232_97809233del

Select item 14912018913.

rs1491201891 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:96060627 (GRCh38)
10:97820384 (GRCh37)
Canonical SPDI:: NC_000010.11:96060626:CT:
Gene:: CCNJ (Varview), ENTPD1-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00021/6 (TOMMO)
HGVS:: NC_000010.11:g.96060627_96060628del, NC_000010.10:g.97820384_97820385del, NM_019084.5:c.*2386_*2387del, NM_019084.4:c.*2386_*2387del, XM_005269921.4:c.*2386_*2387del, XM_005269921.2:c.*2386_*2387del, XM_005269921.1:c.*2386_*2387del, XM_011539885.3:c.*2386_*2387del, XM_011539885.1:c.*2386_*2387del, XM_017016354.2:c.*2386_*2387del, XM_017016354.1:c.*2386_*2387del, XM_017016356.2:c.*2386_*2387del, XM_017016356.1:c.*2386_*2387del, NM_001134375.2:c.*2386_*2387del, NM_001134375.1:c.*2386_*2387del, NM_001134376.2:c.*2386_*2387del, NM_001134376.1:c.*2386_*2387del, XM_017016355.2:c.*2386_*2387del, XM_017016355.1:c.*2386_*2387del, XM_047425381.1:c.*2386_*2387del

Select item 14911468214.

rs1491146821 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:96049474 (GRCh38)
10:97809232 (GRCh37)
Canonical SPDI:: NC_000010.11:96049474:C:CC
Gene:: CCNJ (Varview), ENTPD1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.96049475dup, NC_000010.10:g.97809232dup

Select item 14909585575.

rs1490958557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:96043813 (GRCh38)
10:97803570 (GRCh37)
Canonical SPDI:: NC_000010.11:96043812:G:A,NC_000010.11:96043812:G:T
Gene:: CCNJ (Varview), ENTPD1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000036/5 (GnomAD)
A=0.000556/1 (Korea1K)
A=0.000686/2 (KOREAN)
A=0.000743/12 (TOMMO)
HGVS:: NC_000010.11:g.96043813G>A, NC_000010.11:g.96043813G>T, NC_000010.10:g.97803570G>A, NC_000010.10:g.97803570G>T, XM_017016354.2:c.-437G>A, XM_017016354.2:c.-437G>T, XM_017016354.1:c.-437G>A, XM_017016354.1:c.-437G>T, XM_017016356.2:c.-437G>A, XM_017016356.2:c.-437G>T

Select item 14909073246.

rs1490907324 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:96041810 (GRCh38)
10:97801567 (GRCh37)
Canonical SPDI:: NC_000010.11:96041806:TCTCT:TCT
Gene:: CCNJ (Varview), ENTPD1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000034/9 (TOPMED)
HGVS:: NC_000010.11:g.96041808CT[1], NC_000010.10:g.97801565CT[1]

Select item 14907111067.

rs1490711106 has merged into rs150769179 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTATGGTTGGGGGGGTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:96049490 (GRCh38)
10:97809247 (GRCh37)
Canonical SPDI:: NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTATGGTTGGGGGGGTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:96049481:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CCNJ (Varview), ENTPD1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
T=0.273363/1369 (1000Genomes)
HGVS:: NC_000010.11:g.96049490_96049499del, NC_000010.11:g.96049491_96049499del, NC_000010.11:g.96049492_96049499del, NC_000010.11:g.96049493_96049499del, NC_000010.11:g.96049494_96049499del, NC_000010.11:g.96049495_96049499del, NC_000010.11:g.96049496_96049499del, NC_000010.11:g.96049497_96049499del, NC_000010.11:g.96049498_96049499del, NC_000010.11:g.96049499del, NC_000010.11:g.96049499dup, NC_000010.11:g.96049498_96049499dup, NC_000010.11:g.96049482_96049499T[20]ATGGTTGGGGGGGTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.96049497_96049499dup, NC_000010.11:g.96049496_96049499dup, NC_000010.11:g.96049495_96049499dup, NC_000010.11:g.96049494_96049499dup, NC_000010.11:g.96049493_96049499dup, NC_000010.11:g.96049492_96049499dup, NC_000010.11:g.96049490_96049499dup, NC_000010.11:g.96049489_96049499dup, NC_000010.11:g.96049488_96049499dup, NC_000010.11:g.96049487_96049499dup, NC_000010.11:g.96049486_96049499dup, NC_000010.11:g.96049485_96049499dup, NC_000010.11:g.96049484_96049499dup, NC_000010.11:g.96049483_96049499dup, NC_000010.11:g.96049482_96049499dup, NC_000010.11:g.96049499_96049500insTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.96049499_96049500insTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.96049499_96049500insTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.96049499_96049500insTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.96049499_96049500insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.96049499_96049500insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.97809247_97809256del, NC_000010.10:g.97809248_97809256del, NC_000010.10:g.97809249_97809256del, NC_000010.10:g.97809250_97809256del, NC_000010.10:g.97809251_97809256del, NC_000010.10:g.97809252_97809256del, NC_000010.10:g.97809253_97809256del, NC_000010.10:g.97809254_97809256del, NC_000010.10:g.97809255_97809256del, NC_000010.10:g.97809256del, NC_000010.10:g.97809256dup, NC_000010.10:g.97809255_97809256dup, NC_000010.10:g.97809239_97809256T[20]ATGGTTGGGGGGGTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.97809254_97809256dup, NC_000010.10:g.97809253_97809256dup, NC_000010.10:g.97809252_97809256dup, NC_000010.10:g.97809251_97809256dup, NC_000010.10:g.97809250_97809256dup, NC_000010.10:g.97809249_97809256dup, NC_000010.10:g.97809247_97809256dup, NC_000010.10:g.97809246_97809256dup, NC_000010.10:g.97809245_97809256dup, NC_000010.10:g.97809244_97809256dup, NC_000010.10:g.97809243_97809256dup, NC_000010.10:g.97809242_97809256dup, NC_000010.10:g.97809241_97809256dup, NC_000010.10:g.97809240_97809256dup, NC_000010.10:g.97809239_97809256dup, NC_000010.10:g.97809256_97809257insTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.97809256_97809257insTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.97809256_97809257insTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.97809256_97809257insTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.97809256_97809257insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.97809256_97809257insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14905314638.

rs1490531463 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:96049070 (GRCh38)
10:97808827 (GRCh37)
Canonical SPDI:: NC_000010.11:96049069:A:T
Gene:: CCNJ (Varview), ENTPD1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.96049070A>T, NC_000010.10:g.97808827A>T

Select item 14904053409.

rs1490405340 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAAG>- [Show Flanks]
Chromosome:: 10:96043134 (GRCh38)
10:97802891 (GRCh37)
Canonical SPDI:: NC_000010.11:96043130:AAGTAAG:AAG
Gene:: CCNJ (Varview), ENTPD1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAG=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.96043134_96043137del, NC_000010.10:g.97802891_97802894del, XM_011539885.3:c.-143_-140del, XM_011539885.2:c.-143_-140del, XM_011539885.1:c.-143_-140del

Select item 149014134010.

rs1490141340 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:96043225 (GRCh38)
10:97802982 (GRCh37)
Canonical SPDI:: NC_000010.11:96043224:G:A
Gene:: CCNJ (Varview), ENTPD1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.96043225G>A, NC_000010.10:g.97802982G>A, XM_011539885.3:c.-52G>A, XM_011539885.2:c.-52G>A, XM_011539885.1:c.-52G>A

Select item 148980806611.

rs1489808066 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:96041744 (GRCh38)
10:97801501 (GRCh37)
Canonical SPDI:: NC_000010.11:96041743:T:C
Gene:: CCNJ (Varview), ENTPD1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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:: NC_000010.11:g.96041744T>C, NC_000010.10:g.97801501T>C

Select item 148959636312.

rs1489596363 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:96054815 (GRCh38)
10:97814572 (GRCh37)
Canonical SPDI:: NC_000010.11:96054814:G:A
Gene:: CCNJ (Varview), ENTPD1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000162/3 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000036/5 (GnomAD)
A=0.00067/3 (Estonian)
HGVS:: NC_000010.11:g.96054815G>A, NC_000010.10:g.97814572G>A

Select item 148942390113.

rs1489423901 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:96058005 (GRCh38)
10:97817762 (GRCh37)
Canonical SPDI:: NC_000010.11:96058004:T:A
Gene:: CCNJ (Varview), ENTPD1-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.96058005T>A, NC_000010.10:g.97817762T>A, NM_019084.5:c.883T>A, NM_019084.4:c.883T>A, XM_005269921.4:c.574T>A, XM_005269921.3:c.574T>A, XM_005269921.2:c.574T>A, XM_005269921.1:c.574T>A, XM_011539885.3:c.916T>A, XM_011539885.2:c.916T>A, XM_011539885.1:c.916T>A, XM_017016354.2:c.1060T>A, XM_017016354.1:c.1060T>A, XM_017016356.2:c.1024T>A, XM_017016356.1:c.1024T>A, NM_001134375.2:c.916T>A, NM_001134375.1:c.916T>A, NM_001134376.2:c.880T>A, NM_001134376.1:c.880T>A, XM_017016355.2:c.883T>A, XM_017016355.1:c.1027T>A, XM_047425381.1:c.538T>A, NP_061957.2:p.Ser295Thr, XP_005269978.1:p.Ser192Thr, XP_011538187.1:p.Ser306Thr, XP_016871843.1:p.Ser354Thr, XP_016871845.1:p.Ser342Thr, NP_001127847.1:p.Ser306Thr, NP_001127848.1:p.Ser294Thr, XP_016871844.2:p.Ser295Thr, XP_047281337.1:p.Ser180Thr

Select item 148915641614.

rs1489156416 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:96055792 (GRCh38)
10:97815549 (GRCh37)
Canonical SPDI:: NC_000010.11:96055791:C:T
Gene:: CCNJ (Varview), ENTPD1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.96055792C>T, NC_000010.10:g.97815549C>T

Select item 148893138115.

rs1488931381 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:96056919 (GRCh38)
10:97816676 (GRCh37)
Canonical SPDI:: NC_000010.11:96056918:G:A
Gene:: CCNJ (Varview), ENTPD1-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000010.11:g.96056919G>A, NC_000010.10:g.97816676G>A, NM_019084.5:c.499G>A, NM_019084.4:c.499G>A, XM_005269921.4:c.157G>A, XM_005269921.3:c.157G>A, XM_005269921.2:c.157G>A, XM_005269921.1:c.157G>A, XM_011539885.3:c.499G>A, XM_011539885.2:c.499G>A, XM_011539885.1:c.499G>A, XM_017016354.2:c.643G>A, XM_017016354.1:c.643G>A, XM_017016356.2:c.643G>A, XM_017016356.1:c.643G>A, NM_001134375.2:c.499G>A, NM_001134375.1:c.499G>A, NM_001134376.2:c.499G>A, NM_001134376.1:c.499G>A, XM_017016355.2:c.499G>A, XM_017016355.1:c.643G>A, XM_047425381.1:c.157G>A, NP_061957.2:p.Gly167Ser, XP_005269978.1:p.Gly53Ser, XP_011538187.1:p.Gly167Ser, XP_016871843.1:p.Gly215Ser, XP_016871845.1:p.Gly215Ser, NP_001127847.1:p.Gly167Ser, NP_001127848.1:p.Gly167Ser, XP_016871844.2:p.Gly167Ser, XP_047281337.1:p.Gly53Ser

Select item 148890021716.

rs1488900217 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:96056086 (GRCh38)
10:97815843 (GRCh37)
Canonical SPDI:: NC_000010.11:96056085:G:A
Gene:: CCNJ (Varview), ENTPD1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.96056086G>A, NC_000010.10:g.97815843G>A

Select item 148879362717.

rs1488793627 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTG [Show Flanks]
Chromosome:: 10:96049316 (GRCh38)
10:97809074 (GRCh37)
Canonical SPDI:: NC_000010.11:96049316::TTTG
Gene:: CCNJ (Varview), ENTPD1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTG=0./0 (ALFA)
TTTG=0.000093/13 (GnomAD)
HGVS:: NC_000010.11:g.96049316_96049317insTTTG, NC_000010.10:g.97809073_97809074insTTTG

Select item 148878325518.

rs1488783255 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:96041439 (GRCh38)
10:97801196 (GRCh37)
Canonical SPDI:: NC_000010.11:96041438:A:C
Gene:: CCNJ (Varview), ENTPD1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000016/2 (GnomAD)
HGVS:: NC_000010.11:g.96041439A>C, NC_000010.10:g.97801196A>C

Select item 148876495319.

rs1488764953 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:96047107 (GRCh38)
10:97806864 (GRCh37)
Canonical SPDI:: NC_000010.11:96047106:G:T
Gene:: CCNJ (Varview), ENTPD1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000010.11:g.96047107G>T, NC_000010.10:g.97806864G>T

Select item 148816882420.

rs1488168824 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:96055321 (GRCh38)
10:97815078 (GRCh37)
Canonical SPDI:: NC_000010.11:96055320:G:C
Gene:: CCNJ (Varview), ENTPD1-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.96055321G>C, NC_000010.10:g.97815078G>C

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