SNP Links for Gene (Select 114336) - SNP

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Links from Gene

Items: 1 to 20 of 1594

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Select item 14914521471.

rs1491452147 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:49033624 (GRCh38)
19:49536881 (GRCh37)
Canonical SPDI:: NC_000019.10:49033622:AGA:A
Gene:: CGB2 (Varview), SNAR-G2 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00094/6 (1000Genomes)
HGVS:: NC_000019.10:g.49033624_49033625del, NC_000019.9:g.49536881_49536882del

Select item 14908713062.

rs1490871306 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 19:49033483 (GRCh38)
19:49536740 (GRCh37)
Canonical SPDI:: NC_000019.10:49033480:AAAA:AA
Gene:: CGB2 (Varview), SNAR-G2 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
HGVS:: NC_000019.10:g.49033483_49033484del, NC_000019.9:g.49536740_49536741del

Select item 14905432203.

rs1490543220 [Homo sapiens]

Variant type:: INS
Alleles:: ->TT [Show Flanks]
Chromosome:: 19:49032663 (GRCh38)
19:49535921 (GRCh37)
Canonical SPDI:: NC_000019.10:49032663::TT
Gene:: CGB2 (Varview), SNAR-G2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,frameshift_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.49032663_49032664insTT, NC_000019.9:g.49535920_49535921insTT, NM_001319065.2:c.133_134insTT, NM_001319065.1:c.133_134insTT, NM_033378.2:c.169_170insTT, NM_033378.1:c.169_170insTT, NP_001305994.1:p.Pro45fs, NP_203696.2:p.Pro57fs

Select item 14904966444.

rs1490496644 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49031535 (GRCh38)
19:49534792 (GRCh37)
Canonical SPDI:: NC_000019.10:49031534:C:T
Gene:: CGB2 (Varview), SNAR-G2 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000022/3 (GnomAD)
T=0.000026/7 (TOPMED)
T=0.000156/1 (1000Genomes)
T=0.001592/27 (TOMMO)
T=0.001638/3 (Korea1K)
T=0.003082/9 (KOREAN)
HGVS:: NC_000019.10:g.49031535C>T, NC_000019.9:g.49534792C>T

Select item 14900531785.

rs1490053178 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:49032133 (GRCh38)
19:49535390 (GRCh37)
Canonical SPDI:: NC_000019.10:49032132:A:G
Gene:: CGB2 (Varview), SNAR-G2 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49032133A>G, NC_000019.9:g.49535390A>G, NM_001319065.2:c.-165A>G, NM_001319065.1:c.-165A>G

Select item 14900498866.

rs1490049886 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:49033703 (GRCh38)
19:49536960 (GRCh37)
Canonical SPDI:: NC_000019.10:49033702:C:G,NC_000019.10:49033702:C:T
Gene:: CGB2 (Varview), SNAR-G2 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00018/3 (TOMMO)
T=0.00068/2 (KOREAN)
T=0.00109/2 (Korea1K)
HGVS:: NC_000019.10:g.49033703C>G, NC_000019.10:g.49033703C>T, NC_000019.9:g.49536960C>G, NC_000019.9:g.49536960C>T

Select item 14899102547.

rs1489910254 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:49031571 (GRCh38)
19:49534828 (GRCh37)
Canonical SPDI:: NC_000019.10:49031570:A:C
Gene:: CGB2 (Varview), SNAR-G2 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.49031571A>C, NC_000019.9:g.49534828A>C

Select item 14883890438.

rs1488389043 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49033030 (GRCh38)
19:49536287 (GRCh37)
Canonical SPDI:: NC_000019.10:49033029:G:A
Gene:: CGB2 (Varview), SNAR-G2 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000017/2 (GnomAD)
HGVS:: NC_000019.10:g.49033030G>A, NC_000019.9:g.49536287G>A, NM_001319065.2:c.265G>A, NM_001319065.1:c.265G>A, NM_033378.2:c.301G>A, NM_033378.1:c.301G>A, NP_001305994.1:p.Ala89Thr, NP_203696.2:p.Ala101Thr

Select item 14879635529.

rs1487963552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:49031989 (GRCh38)
19:49535246 (GRCh37)
Canonical SPDI:: NC_000019.10:49031988:G:A,NC_000019.10:49031988:G:C
Gene:: CGB2 (Varview), SNAR-G2 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
C=0.000156/1 (1000Genomes)
C=0.000354/6 (TOMMO)
C=0.000546/1 (Korea1K)
C=0.001711/5 (KOREAN)
HGVS:: NC_000019.10:g.49031989G>A, NC_000019.10:g.49031989G>C, NC_000019.9:g.49535246G>A, NC_000019.9:g.49535246G>C, NM_001319065.2:c.-309G>A, NM_001319065.2:c.-309G>C, NM_001319065.1:c.-309G>A, NM_001319065.1:c.-309G>C, NM_033378.2:c.-107G>A, NM_033378.2:c.-107G>C, NM_033378.1:c.-107G>A, NM_033378.1:c.-107G>C

Select item 148703534010.

rs1487035340 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:49033112 (GRCh38)
19:49536369 (GRCh37)
Canonical SPDI:: NC_000019.10:49033111:G:C
Gene:: CGB2 (Varview), SNAR-G2 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49033112G>C, NC_000019.9:g.49536369G>C, NM_001319065.2:c.347G>C, NM_001319065.1:c.347G>C, NM_033378.2:c.383G>C, NM_033378.1:c.383G>C, NP_001305994.1:p.Cys116Ser, NP_203696.2:p.Cys128Ser

Select item 148609459411.

rs1486094594 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:49033530 (GRCh38)
19:49536787 (GRCh37)
Canonical SPDI:: NC_000019.10:49033529:C:A,NC_000019.10:49033529:C:T
Gene:: CGB2 (Varview), SNAR-G2 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.49033530C>A, NC_000019.10:g.49033530C>T, NC_000019.9:g.49536787C>A, NC_000019.9:g.49536787C>T

Select item 148501135512.

rs1485011355 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:49032811 (GRCh38)
19:49536068 (GRCh37)
Canonical SPDI:: NC_000019.10:49032810:G:A,NC_000019.10:49032810:G:C
Gene:: CGB2 (Varview), SNAR-G2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000017/2 (GnomAD)
HGVS:: NC_000019.10:g.49032811G>A, NC_000019.10:g.49032811G>C, NC_000019.9:g.49536068G>A, NC_000019.9:g.49536068G>C

Select item 148457032713.

rs1484570327 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:49033587 (GRCh38)
19:49536844 (GRCh37)
Canonical SPDI:: NC_000019.10:49033586:G:A,NC_000019.10:49033586:G:C
Gene:: CGB2 (Varview), SNAR-G2 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000136/36 (TOPMED)
C=0.000343/1 (KOREAN)
C=0.000625/4 (1000Genomes)
HGVS:: NC_000019.10:g.49033587G>A, NC_000019.10:g.49033587G>C, NC_000019.9:g.49536844G>A, NC_000019.9:g.49536844G>C

Select item 148434478814.

rs1484344788 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:49030461 (GRCh38)
19:49533718 (GRCh37)
Canonical SPDI:: NC_000019.10:49030460:A:C
Gene:: CGB2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.49030461A>C, NC_000019.9:g.49533718A>C, NG_029364.2:g.858A>C

Select item 148418230315.

rs1484182303 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:49030485 (GRCh38)
19:49533742 (GRCh37)
Canonical SPDI:: NC_000019.10:49030484:C:A
Gene:: CGB2 (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:: NC_000019.10:g.49030485C>A, NC_000019.9:g.49533742C>A, NG_029364.2:g.882C>A

Select item 148372162916.

rs1483721629 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49030844 (GRCh38)
19:49534101 (GRCh37)
Canonical SPDI:: NC_000019.10:49030843:T:C
Gene:: CGB2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000066/1 (ALFA)
C=0.000008/1 (GnomAD)
HGVS:: NC_000019.10:g.49030844T>C, NC_000019.9:g.49534101T>C

Select item 148367397517.

rs1483673975 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:49030548 (GRCh38)
19:49533805 (GRCh37)
Canonical SPDI:: NC_000019.10:49030547:G:T
Gene:: CGB2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.49030548G>T, NC_000019.9:g.49533805G>T, NG_029364.2:g.945G>T

Select item 148273778718.

rs1482737787 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:49031337 (GRCh38)
19:49534594 (GRCh37)
Canonical SPDI:: NC_000019.10:49031336:A:G
Gene:: CGB2 (Varview), SNAR-G2 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.49031337A>G, NC_000019.9:g.49534594A>G

Select item 148206118219.

rs1482061182 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:49033521 (GRCh38)
19:49536778 (GRCh37)
Canonical SPDI:: NC_000019.10:49033520:T:C,NC_000019.10:49033520:T:G
Gene:: CGB2 (Varview), SNAR-G2 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49033521T>C, NC_000019.10:g.49033521T>G, NC_000019.9:g.49536778T>C, NC_000019.9:g.49536778T>G

Select item 148064627520.

rs1480646275 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:49033613 (GRCh38)
19:49536870 (GRCh37)
Canonical SPDI:: NC_000019.10:49033612:A:C,NC_000019.10:49033612:A:G
Gene:: CGB2 (Varview), SNAR-G2 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
C=0.000004/1 (TOPMED)
G=0.000937/6 (1000Genomes)
HGVS:: NC_000019.10:g.49033613A>C, NC_000019.10:g.49033613A>G, NC_000019.9:g.49536870A>C, NC_000019.9:g.49536870A>G

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