SNP Links for Gene (Select 100191040) - SNP

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Select item 14915298801.

rs1491529880 has merged into rs67855843 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:151842487 (GRCh38)
1:151814963 (GRCh37)
Canonical SPDI:: NC_000001.11:151842477:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:151842477:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:151842477:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:151842477:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:151842477:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:151842477:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:151842477:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:151842477:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:151842477:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:151842477:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:151842477:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151842477:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151842477:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151842477:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151842477:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151842477:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151842477:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151842477:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151842477:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151842477:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:151842477:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: C2CD4D-AS1 (Varview), C2CD4D (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.151842487_151842496del, NC_000001.11:g.151842489_151842496del, NC_000001.11:g.151842490_151842496del, NC_000001.11:g.151842491_151842496del, NC_000001.11:g.151842492_151842496del, NC_000001.11:g.151842493_151842496del, NC_000001.11:g.151842494_151842496del, NC_000001.11:g.151842495_151842496del, NC_000001.11:g.151842496del, NC_000001.11:g.151842496dup, NC_000001.11:g.151842495_151842496dup, NC_000001.11:g.151842494_151842496dup, NC_000001.11:g.151842493_151842496dup, NC_000001.11:g.151842492_151842496dup, NC_000001.11:g.151842491_151842496dup, NC_000001.11:g.151842490_151842496dup, NC_000001.11:g.151842489_151842496dup, NC_000001.11:g.151842488_151842496dup, NC_000001.11:g.151842487_151842496dup, NC_000001.11:g.151842486_151842496dup, NC_000001.11:g.151842485_151842496dup, NC_000001.10:g.151814963_151814972del, NC_000001.10:g.151814965_151814972del, NC_000001.10:g.151814966_151814972del, NC_000001.10:g.151814967_151814972del, NC_000001.10:g.151814968_151814972del, NC_000001.10:g.151814969_151814972del, NC_000001.10:g.151814970_151814972del, NC_000001.10:g.151814971_151814972del, NC_000001.10:g.151814972del, NC_000001.10:g.151814972dup, NC_000001.10:g.151814971_151814972dup, NC_000001.10:g.151814970_151814972dup, NC_000001.10:g.151814969_151814972dup, NC_000001.10:g.151814968_151814972dup, NC_000001.10:g.151814967_151814972dup, NC_000001.10:g.151814966_151814972dup, NC_000001.10:g.151814965_151814972dup, NC_000001.10:g.151814964_151814972dup, NC_000001.10:g.151814963_151814972dup, NC_000001.10:g.151814962_151814972dup, NC_000001.10:g.151814961_151814972dup

Select item 14913448692.

rs1491344869 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 1:151842478 (GRCh38)
1:151814955 (GRCh37)
Canonical SPDI:: NC_000001.11:151842478:TT:TTCTT
Gene:: C2CD4D-AS1 (Varview), C2CD4D (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTT=0.00025/3 (ALFA)
TTC=0.00022/3 (TOMMO)
TTC=0.00419/83 (GnomAD)
HGVS:: NC_000001.11:g.151842480_151842481insCTT, NC_000001.10:g.151814956_151814957insCTT

Select item 14907137523.

rs1490713752 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAG>- [Show Flanks]
Chromosome:: 1:151839198 (GRCh38)
1:151811674 (GRCh37)
Canonical SPDI:: NC_000001.11:151839193:AAAGAAAG:AAAG
Gene:: C2CD4D-AS1 (Varview), C2CD4D (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AAAGAAAG=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.151839194AAAG[1], NC_000001.10:g.151811670AAAG[1], NM_001136003.2:c.-212CTTT[1], NM_001136003.1:c.-212CTTT[1], NM_001394592.1:c.-212CTTT[1], NM_001394591.1:c.-212CTTT[1], NM_001394593.1:c.-212CTTT[1]

Select item 14906778314.

rs1490677831 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151840345 (GRCh38)
1:151812821 (GRCh37)
Canonical SPDI:: NC_000001.11:151840344:G:A
Gene:: C2CD4D-AS1 (Varview), C2CD4D (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.151840345G>A, NC_000001.10:g.151812821G>A, NM_001136003.2:c.-374C>T, NM_001136003.1:c.-374C>T

Select item 14902269535.

rs1490226953 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:151838760 (GRCh38)
1:151811236 (GRCh37)
Canonical SPDI:: NC_000001.11:151838759:G:C
Gene:: C2CD4D-AS1 (Varview), C2CD4D (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.151838760G>C, NC_000001.10:g.151811236G>C, NM_001136003.2:c.230C>G, NM_001136003.1:c.230C>G, NM_001394592.1:c.230C>G, NM_001394591.1:c.230C>G, NM_001394593.1:c.230C>G, NP_001129475.1:p.Pro77Arg, NP_001381521.1:p.Pro77Arg, NP_001381520.1:p.Pro77Arg, NP_001381522.1:p.Pro77Arg

Select item 14897952406.

rs1489795240 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151842231 (GRCh38)
1:151814707 (GRCh37)
Canonical SPDI:: NC_000001.11:151842230:G:A
Gene:: C2CD4D-AS1 (Varview), C2CD4D (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000053/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000214/30 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.151842231G>A, NC_000001.10:g.151814707G>A

Select item 14890920967.

rs1489092096 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:151838991 (GRCh38)
1:151811467 (GRCh37)
Canonical SPDI:: NC_000001.11:151838990:C:T
Gene:: C2CD4D-AS1 (Varview), C2CD4D (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151838991C>T, NC_000001.10:g.151811467C>T, NM_001136003.2:c.-2G>A, NM_001136003.1:c.-2G>A, NM_001394592.1:c.-2G>A, NM_001394591.1:c.-2G>A, NM_001394593.1:c.-2G>A

Select item 14887150418.

rs1488715041 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 1:151841019 (GRCh38)
1:151813495 (GRCh37)
Canonical SPDI:: NC_000001.11:151841018:G:A,NC_000001.11:151841018:G:C,NC_000001.11:151841018:G:T
Gene:: C2CD4D-AS1 (Varview), C2CD4D (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.151841019G>A, NC_000001.11:g.151841019G>C, NC_000001.11:g.151841019G>T, NC_000001.10:g.151813495G>A, NC_000001.10:g.151813495G>C, NC_000001.10:g.151813495G>T

Select item 14886760169.

rs1488676016 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:151842402 (GRCh38)
1:151814878 (GRCh37)
Canonical SPDI:: NC_000001.11:151842401:A:T
Gene:: C2CD4D-AS1 (Varview), C2CD4D (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.151842402A>T, NC_000001.10:g.151814878A>T

Select item 148838754910.

rs1488387549 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGAG>- [Show Flanks]
Chromosome:: 1:151840365 (GRCh38)
1:151812841 (GRCh37)
Canonical SPDI:: NC_000001.11:151840361:GAGGGAG:GAG
Gene:: C2CD4D-AS1 (Varview), C2CD4D (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAG=0.000071/1 (ALFA)
-=0.000114/16 (GnomAD)
-=0.000155/41 (TOPMED)
HGVS:: NC_000001.11:g.151840365_151840368del, NC_000001.10:g.151812841_151812844del, NM_001136003.2:c.-394_-391del, NM_001136003.1:c.-394_-391del

Select item 148781041011.

rs1487810410 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:151840448 (GRCh38)
1:151812924 (GRCh37)
Canonical SPDI:: NC_000001.11:151840447:A:G
Gene:: C2CD4D-AS1 (Varview), C2CD4D (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.151840448A>G, NC_000001.10:g.151812924A>G, NM_001136003.2:c.-477T>C, NM_001136003.1:c.-477T>C

Select item 148767887512.

rs1487678875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:151837813 (GRCh38)
1:151810289 (GRCh37)
Canonical SPDI:: NC_000001.11:151837812:C:A
Gene:: C2CD4D-AS1 (Varview), C2CD4D (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.151837813C>A, NC_000001.10:g.151810289C>A

Select item 148711929213.

rs1487119292 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:151838285 (GRCh38)
1:151810761 (GRCh37)
Canonical SPDI:: NC_000001.11:151838284:C:T
Gene:: C2CD4D-AS1 (Varview), C2CD4D (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151838285C>T, NC_000001.10:g.151810761C>T, NR_024237.2:n.9C>T, NM_001136003.2:c.705G>A, NM_001136003.1:c.705G>A, NR_152846.1:n.9C>T, NM_001394592.1:c.705G>A, NM_001394591.1:c.705G>A, NM_001394593.1:c.705G>A

Select item 148581058714.

rs1485810587 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:151839432 (GRCh38)
1:151811908 (GRCh37)
Canonical SPDI:: NC_000001.11:151839431:C:A,NC_000001.11:151839431:C:T
Gene:: C2CD4D-AS1 (Varview), C2CD4D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.151839432C>A, NC_000001.11:g.151839432C>T, NC_000001.10:g.151811908C>A, NC_000001.10:g.151811908C>T

Select item 148523256815.

rs1485232568 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:151838537 (GRCh38)
1:151811013 (GRCh37)
Canonical SPDI:: NC_000001.11:151838536:G:A,NC_000001.11:151838536:G:T
Gene:: C2CD4D-AS1 (Varview), C2CD4D (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.151838537G>A, NC_000001.11:g.151838537G>T, NC_000001.10:g.151811013G>A, NC_000001.10:g.151811013G>T, NR_024237.2:n.261G>A, NR_024237.2:n.261G>T, NR_024237.1:n.69G>A, NR_024237.1:n.69G>T, NM_001136003.2:c.453C>T, NM_001136003.2:c.453C>A, NM_001136003.1:c.453C>T, NM_001136003.1:c.453C>A, NR_152846.1:n.261G>A, NR_152846.1:n.261G>T, NM_001394592.1:c.453C>T, NM_001394592.1:c.453C>A, NM_001394591.1:c.453C>T, NM_001394591.1:c.453C>A, NM_001394593.1:c.453C>T, NM_001394593.1:c.453C>A, NP_001129475.1:p.Phe151Leu, NP_001381521.1:p.Phe151Leu, NP_001381520.1:p.Phe151Leu, NP_001381522.1:p.Phe151Leu

Select item 148519574916.

rs1485195749 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:151840012 (GRCh38)
1:151812488 (GRCh37)
Canonical SPDI:: NC_000001.11:151840011:T:C
Gene:: C2CD4D-AS1 (Varview), C2CD4D (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.151840012T>C, NC_000001.10:g.151812488T>C

Select item 148438118717.

rs1484381187 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151838377 (GRCh38)
1:151810853 (GRCh37)
Canonical SPDI:: NC_000001.11:151838376:G:A
Gene:: C2CD4D-AS1 (Varview), C2CD4D (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.151838377G>A, NC_000001.10:g.151810853G>A, NR_024237.2:n.101G>A, NM_001136003.2:c.613C>T, NM_001136003.1:c.613C>T, NR_152846.1:n.101G>A, NM_001394592.1:c.613C>T, NM_001394591.1:c.613C>T, NM_001394593.1:c.613C>T, NP_001129475.1:p.Arg205Trp, NP_001381521.1:p.Arg205Trp, NP_001381520.1:p.Arg205Trp, NP_001381522.1:p.Arg205Trp

Select item 148175884718.

rs1481758847 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:151839601 (GRCh38)
1:151812077 (GRCh37)
Canonical SPDI:: NC_000001.11:151839600:C:G,NC_000001.11:151839600:C:T
Gene:: C2CD4D-AS1 (Varview), C2CD4D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
T=0.000035/1 (TOMMO)
G=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.151839601C>G, NC_000001.11:g.151839601C>T, NC_000001.10:g.151812077C>G, NC_000001.10:g.151812077C>T

Select item 148172879119.

rs1481728791 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:151837880 (GRCh38)
1:151810356 (GRCh37)
Canonical SPDI:: NC_000001.11:151837879:T:C,NC_000001.11:151837879:T:G
Gene:: C2CD4D-AS1 (Varview), C2CD4D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.151837880T>C, NC_000001.11:g.151837880T>G, NC_000001.10:g.151810356T>C, NC_000001.10:g.151810356T>G, NM_001136003.2:c.*48A>G, NM_001136003.2:c.*48A>C, NM_001136003.1:c.*48A>G, NM_001136003.1:c.*48A>C, NM_001394592.1:c.*48A>G, NM_001394592.1:c.*48A>C, NM_001394591.1:c.*48A>G, NM_001394591.1:c.*48A>C, NM_001394593.1:c.*48A>G, NM_001394593.1:c.*48A>C

Select item 148119446920.

rs1481194469 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:151839294 (GRCh38)
1:151811770 (GRCh37)
Canonical SPDI:: NC_000001.11:151839293:A:G
Gene:: C2CD4D-AS1 (Varview), C2CD4D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.151839294A>G, NC_000001.10:g.151811770A>G

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