SNP Links for Gene (Select 83942) - SNP

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Select item 14902747981.

rs1490274798 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:113435291 (GRCh38)
5:112770988 (GRCh37)
Canonical SPDI:: NC_000005.10:113435290:G:A,NC_000005.10:113435290:G:T
Gene:: MCC (Varview), TSSK1B (Varview), LOC107986366 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.113435291G>A, NC_000005.10:g.113435291G>T, NC_000005.9:g.112770988G>A, NC_000005.9:g.112770988G>T, NG_012265.1:g.58540C>T, NG_012265.1:g.58540C>A

Select item 14898457302.

rs1489845730 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:113435452 (GRCh38)
5:112771149 (GRCh37)
Canonical SPDI:: NC_000005.10:113435451:C:T
Gene:: MCC (Varview), TSSK1B (Varview), LOC107986366 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.113435452C>T, NC_000005.9:g.112771149C>T, NG_012265.1:g.58379G>A

Select item 14890560113.

rs1489056011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:113432055 (GRCh38)
5:112767752 (GRCh37)
Canonical SPDI:: NC_000005.10:113432054:G:A
Gene:: MCC (Varview), TSSK1B (Varview), LOC107986366 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.00007/1 (ALFA)
HGVS:: NC_000005.10:g.113432055G>A, NC_000005.9:g.112767752G>A, NG_012265.1:g.61776C>T

Select item 14884017674.

rs1488401767 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:113436681 (GRCh38)
5:112772378 (GRCh37)
Canonical SPDI:: NC_000005.10:113436680:T:A
Gene:: MCC (Varview), TSSK1B (Varview), LOC107986366 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000005.10:g.113436681T>A, NC_000005.9:g.112772378T>A, NG_012265.1:g.57150A>T

Select item 14882310695.

rs1488231069 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:113436258 (GRCh38)
5:112771955 (GRCh37)
Canonical SPDI:: NC_000005.10:113436257:C:A,NC_000005.10:113436257:C:T
Gene:: MCC (Varview), TSSK1B (Varview), LOC107986366 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.113436258C>A, NC_000005.10:g.113436258C>T, NC_000005.9:g.112771955C>A, NC_000005.9:g.112771955C>T, NG_012265.1:g.57573G>T, NG_012265.1:g.57573G>A

Select item 14874205636.

rs1487420563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:113436128 (GRCh38)
5:112771825 (GRCh37)
Canonical SPDI:: NC_000005.10:113436127:G:A
Gene:: MCC (Varview), TSSK1B (Varview), LOC107986366 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.113436128G>A, NC_000005.9:g.112771825G>A, NG_012265.1:g.57703C>T

Select item 14872943437.

rs1487294343 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:113433683 (GRCh38)
5:112769380 (GRCh37)
Canonical SPDI:: NC_000005.10:113433682:G:A
Gene:: MCC (Varview), TSSK1B (Varview), LOC107986366 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.113433683G>A, NC_000005.9:g.112769380G>A, NG_012265.1:g.60148C>T, NM_032028.4:c.*53C>T, NM_032028.3:c.*53C>T

Select item 14871314548.

rs1487131454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:113434968 (GRCh38)
5:112770665 (GRCh37)
Canonical SPDI:: NC_000005.10:113434967:C:T
Gene:: MCC (Varview), TSSK1B (Varview), LOC107986366 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.113434968C>T, NC_000005.9:g.112770665C>T, NG_012265.1:g.58863G>A, NM_032028.4:c.-129G>A, NM_032028.3:c.-129G>A

Select item 14869395279.

rs1486939527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:113433826 (GRCh38)
5:112769523 (GRCh37)
Canonical SPDI:: NC_000005.10:113433825:C:T
Gene:: MCC (Varview), TSSK1B (Varview), LOC107986366 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.113433826C>T, NC_000005.9:g.112769523C>T, NG_012265.1:g.60005G>A, NM_032028.4:c.1014G>A, NM_032028.3:c.1014G>A

Select item 148667014210.

rs1486670142 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:113432653 (GRCh38)
5:112768350 (GRCh37)
Canonical SPDI:: NC_000005.10:113432652:A:C
Gene:: MCC (Varview), TSSK1B (Varview), LOC107986366 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.113432653A>C, NC_000005.9:g.112768350A>C, NG_012265.1:g.61178T>G, NM_032028.4:c.*1083T>G, NM_032028.3:c.*1083T>G

Select item 148584772911.

rs1485847729 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:113432315 (GRCh38)
5:112768012 (GRCh37)
Canonical SPDI:: NC_000005.10:113432314:T:C
Gene:: MCC (Varview), TSSK1B (Varview), LOC107986366 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000018/2 (GnomAD)
HGVS:: NC_000005.10:g.113432315T>C, NC_000005.9:g.112768012T>C, NG_012265.1:g.61516A>G

Select item 148583636812.

rs1485836368 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 5:113434073 (GRCh38)
5:112769771 (GRCh37)
Canonical SPDI:: NC_000005.10:113434073:C:CC
Gene:: MCC (Varview), TSSK1B (Varview), LOC107986366 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.113434074dup, NC_000005.9:g.112769771dup, NG_012265.1:g.59757dup, NM_032028.4:c.766dup, NM_032028.3:c.766dup, NP_114417.1:p.Asp256fs

Select item 148510663413.

rs1485106634 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:113435127 (GRCh38)
5:112770824 (GRCh37)
Canonical SPDI:: NC_000005.10:113435126:A:G
Gene:: MCC (Varview), TSSK1B (Varview), LOC107986366 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000005.10:g.113435127A>G, NC_000005.9:g.112770824A>G, NG_012265.1:g.58704T>C

Select item 148428744714.

rs1484287447 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:113434368 (GRCh38)
5:112770065 (GRCh37)
Canonical SPDI:: NC_000005.10:113434367:A:G
Gene:: MCC (Varview), TSSK1B (Varview), LOC107986366 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_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_000005.10:g.113434368A>G, NC_000005.9:g.112770065A>G, NG_012265.1:g.59463T>C, NM_032028.4:c.472T>C, NM_032028.3:c.472T>C, NP_114417.1:p.Ser158Pro

Select item 148287265015.

rs1482872650 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:113432335 (GRCh38)
5:112768032 (GRCh37)
Canonical SPDI:: NC_000005.10:113432334:A:G
Gene:: MCC (Varview), TSSK1B (Varview), LOC107986366 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000066/1 (ALFA)
G=0.000022/3 (GnomAD)
HGVS:: NC_000005.10:g.113432335A>G, NC_000005.9:g.112768032A>G, NG_012265.1:g.61496T>C

Select item 148264794016.

rs1482647940 has merged into rs1236209692 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATA>-,ATAATA [Show Flanks]
Chromosome:: 5:113432495 (GRCh38)
5:112768192 (GRCh37)
Canonical SPDI:: NC_000005.10:113432487:AATAATAATA:AATAATA,NC_000005.10:113432487:AATAATAATA:AATAATAATAATA
Gene:: MCC (Varview), TSSK1B (Varview), LOC107986366 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AATAATAATAATA=0./0 (ALFA)
HGVS:: NC_000005.10:g.113432489ATA[2], NC_000005.10:g.113432489ATA[4], NC_000005.9:g.112768186ATA[2], NC_000005.9:g.112768186ATA[4], NG_012265.1:g.61335ATT[2], NG_012265.1:g.61335ATT[4]

Select item 148137687217.

rs1481376872 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:113434730 (GRCh38)
5:112770427 (GRCh37)
Canonical SPDI:: NC_000005.10:113434729:T:C
Gene:: MCC (Varview), TSSK1B (Varview), LOC107986366 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.113434730T>C, NC_000005.9:g.112770427T>C, NG_012265.1:g.59101A>G, NM_032028.4:c.110A>G, NM_032028.3:c.110A>G, NP_114417.1:p.Asn37Ser

Select item 148126622418.

rs1481266224 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:113435723 (GRCh38)
5:112771420 (GRCh37)
Canonical SPDI:: NC_000005.10:113435722:A:T
Gene:: MCC (Varview), TSSK1B (Varview), LOC107986366 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.113435723A>T, NC_000005.9:g.112771420A>T, NG_012265.1:g.58108T>A

Select item 148097748819.

rs1480977488 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:113436388 (GRCh38)
5:112772085 (GRCh37)
Canonical SPDI:: NC_000005.10:113436387:T:A
Gene:: MCC (Varview), TSSK1B (Varview), LOC107986366 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.113436388T>A, NC_000005.9:g.112772085T>A, NG_012265.1:g.57443A>T

Select item 148031642520.

rs1480316425 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:113435353 (GRCh38)
5:112771050 (GRCh37)
Canonical SPDI:: NC_000005.10:113435352:G:A
Gene:: MCC (Varview), TSSK1B (Varview), LOC107986366 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.113435353G>A, NC_000005.9:g.112771050G>A, NG_012265.1:g.58478C>T