SNP Links for Nucleotide (Select 262263326) - SNP

Links from Nucleotide

Items: 1 to 20 of 249

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Select item 14909944091.

rs1490994409 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7930528 (GRCh38)
17:7833846 (GRCh37)
Canonical SPDI:: NC_000017.11:7930527:G:A
Gene:: KCNAB3 (Varview), TRAPPC1 (Varview), CNTROB (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.7930528G>A, NC_000017.10:g.7833846G>A, NG_029754.1:g.3405G>A, NM_021210.5:c.*78C>T, NM_021210.4:c.*78C>T, NR_030684.2:n.562C>T, NR_030684.1:n.565C>T, NM_001166621.1:c.*78C>T, NR_030697.1:n.505C>T

Select item 14904859312.

rs1490485931 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:7931816 (GRCh38)
17:7835134 (GRCh37)
Canonical SPDI:: NC_000017.11:7931815:T:G
Gene:: KCNAB3 (Varview), TRAPPC1 (Varview), CNTROB (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7931816T>G, NC_000017.10:g.7835134T>G, NG_029754.1:g.4693T>G, NM_021210.5:c.14A>C, NM_021210.4:c.14A>C, NR_030684.2:n.131A>C, NR_030684.1:n.134A>C, NM_001166621.1:c.14A>C, NR_030697.1:n.74A>C, NP_067033.1:p.Asn5Thr, NP_001160093.1:p.Asn5Thr

Select item 14816225443.

rs1481622544 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7930617 (GRCh38)
17:7833935 (GRCh37)
Canonical SPDI:: NC_000017.11:7930616:G:A
Gene:: KCNAB3 (Varview), TRAPPC1 (Varview), CNTROB (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,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_000017.11:g.7930617G>A, NC_000017.10:g.7833935G>A, NG_029754.1:g.3494G>A, NM_021210.5:c.427C>T, NM_021210.4:c.427C>T, NR_030684.2:n.473C>T, NR_030684.1:n.476C>T, NM_001166621.1:c.427C>T, NR_030697.1:n.416C>T, NP_067033.1:p.Arg143Trp, NP_001160093.1:p.Arg143Trp

Select item 14806044834.

rs1480604483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7931754 (GRCh38)
17:7835072 (GRCh37)
Canonical SPDI:: NC_000017.11:7931753:G:A
Gene:: KCNAB3 (Varview), TRAPPC1 (Varview), CNTROB (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0./0 (KOREAN)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7931754G>A, NC_000017.10:g.7835072G>A, NG_029754.1:g.4631G>A, NM_021210.5:c.76C>T, NM_021210.4:c.76C>T, NR_030684.2:n.193C>T, NR_030684.1:n.196C>T, NM_001166621.1:c.76C>T, NR_030697.1:n.136C>T, NP_067033.1:p.Gln26Ter, NP_001160093.1:p.Gln26Ter

Select item 14767708555.

rs1476770855 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:7930635 (GRCh38)
17:7833953 (GRCh37)
Canonical SPDI:: NC_000017.11:7930634:G:T
Gene:: KCNAB3 (Varview), TRAPPC1 (Varview), CNTROB (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,upstream_transcript_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_000017.11:g.7930635G>T, NC_000017.10:g.7833953G>T, NG_029754.1:g.3512G>T, NM_021210.5:c.409C>A, NM_021210.4:c.409C>A, NR_030684.2:n.455C>A, NR_030684.1:n.458C>A, NM_001166621.1:c.409C>A, NR_030697.1:n.398C>A, NP_067033.1:p.Leu137Met, NP_001160093.1:p.Leu137Met

Select item 14762324436.

rs1476232443 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:7930556 (GRCh38)
17:7833875 (GRCh37)
Canonical SPDI:: NC_000017.11:7930556:AA:AAA
Gene:: KCNAB3 (Varview), TRAPPC1 (Varview), CNTROB (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.7930558dup, NC_000017.10:g.7833876dup, NG_029754.1:g.3435dup, NM_021210.5:c.*49dup, NM_021210.4:c.*49dup, NR_030684.2:n.533dup, NR_030684.1:n.536dup, NM_001166621.1:c.*49dup, NR_030697.1:n.476dup

Select item 14726160727.

rs1472616072 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7930462 (GRCh38)
17:7833780 (GRCh37)
Canonical SPDI:: NC_000017.11:7930461:G:A
Gene:: KCNAB3 (Varview), TRAPPC1 (Varview), CNTROB (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.7930462G>A, NC_000017.10:g.7833780G>A, NG_029754.1:g.3339G>A, NM_021210.5:c.*144C>T, NM_021210.4:c.*144C>T, NR_030684.2:n.628C>T, NR_030684.1:n.631C>T, NM_001166621.1:c.*144C>T, NR_030697.1:n.571C>T

Select item 14714868568.

rs1471486856 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7931092 (GRCh38)
17:7834410 (GRCh37)
Canonical SPDI:: NC_000017.11:7931091:C:T
Gene:: KCNAB3 (Varview), TRAPPC1 (Varview), CNTROB (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.7931092C>T, NC_000017.10:g.7834410C>T, NG_029754.1:g.3969C>T, NM_021210.5:c.228G>A, NM_021210.4:c.228G>A, NR_030684.2:n.274G>A, NR_030684.1:n.277G>A, NM_001166621.1:c.228G>A, NR_030697.1:n.217G>A

Select item 14711706739.

rs1471170673 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:7930687 (GRCh38)
17:7834005 (GRCh37)
Canonical SPDI:: NC_000017.11:7930686:T:C
Gene:: KCNAB3 (Varview), TRAPPC1 (Varview), CNTROB (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.7930687T>C, NC_000017.10:g.7834005T>C, NG_029754.1:g.3564T>C, NM_021210.5:c.357A>G, NM_021210.4:c.357A>G, NR_030684.2:n.403A>G, NR_030684.1:n.406A>G, NM_001166621.1:c.357A>G, NR_030697.1:n.346A>G

Select item 147072273410.

rs1470722734 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:7930517 (GRCh38)
17:7833835 (GRCh37)
Canonical SPDI:: NC_000017.11:7930516:G:C
Gene:: KCNAB3 (Varview), TRAPPC1 (Varview), CNTROB (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_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_000017.11:g.7930517G>C, NC_000017.10:g.7833835G>C, NG_029754.1:g.3394G>C, NM_021210.5:c.*89C>G, NM_021210.4:c.*89C>G, NR_030684.2:n.573C>G, NR_030684.1:n.576C>G, NM_001166621.1:c.*89C>G, NR_030697.1:n.516C>G

Select item 147062980611.

rs1470629806 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:7930529 (GRCh38)
17:7833847 (GRCh37)
Canonical SPDI:: NC_000017.11:7930528:T:C,NC_000017.11:7930528:T:G
Gene:: KCNAB3 (Varview), TRAPPC1 (Varview), CNTROB (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000163/3 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000477/8 (TOMMO)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.7930529T>C, NC_000017.11:g.7930529T>G, NC_000017.10:g.7833847T>C, NC_000017.10:g.7833847T>G, NG_029754.1:g.3406T>C, NG_029754.1:g.3406T>G, NM_021210.5:c.*77A>G, NM_021210.5:c.*77A>C, NM_021210.4:c.*77A>G, NM_021210.4:c.*77A>C, NR_030684.2:n.561A>G, NR_030684.2:n.561A>C, NR_030684.1:n.564A>G, NR_030684.1:n.564A>C, NM_001166621.1:c.*77A>G, NM_001166621.1:c.*77A>C, NR_030697.1:n.504A>G, NR_030697.1:n.504A>C

Select item 146419924212.

rs1464199242 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7930644 (GRCh38)
17:7833962 (GRCh37)
Canonical SPDI:: NC_000017.11:7930643:C:T
Gene:: KCNAB3 (Varview), TRAPPC1 (Varview), CNTROB (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.7930644C>T, NC_000017.10:g.7833962C>T, NG_029754.1:g.3521C>T, NM_021210.5:c.400G>A, NM_021210.4:c.400G>A, NR_030684.2:n.446G>A, NR_030684.1:n.449G>A, NM_001166621.1:c.400G>A, NR_030697.1:n.389G>A, NP_067033.1:p.Val134Ile, NP_001160093.1:p.Val134Ile

Select item 146414417413.

rs1464144174 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:7930508 (GRCh38)
17:7833826 (GRCh37)
Canonical SPDI:: NC_000017.11:7930507:T:G
Gene:: KCNAB3 (Varview), TRAPPC1 (Varview), CNTROB (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.16728/2732 (ALFA)
G=0.00221/37 (TOMMO)
G=0.00329/6 (Korea1K)
G=0.00357/16 (Estonian)
G=0.0889/258 (KOREAN)
HGVS:: NC_000017.11:g.7930508T>G, NC_000017.10:g.7833826T>G, NG_029754.1:g.3385T>G, NM_021210.5:c.*98A>C, NM_021210.4:c.*98A>C, NR_030684.2:n.582A>C, NR_030684.1:n.585A>C, NM_001166621.1:c.*98A>C, NR_030697.1:n.525A>C

Select item 146412232414.

rs1464122324 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:7930349 (GRCh38)
17:7833667 (GRCh37)
Canonical SPDI:: NC_000017.11:7930348:G:C
Gene:: KCNAB3 (Varview), TRAPPC1 (Varview), CNTROB (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7930349G>C, NC_000017.10:g.7833667G>C, NG_029754.1:g.3226G>C, NM_021210.5:c.*257C>G, NM_021210.4:c.*257C>G, NR_030684.2:n.741C>G, NR_030684.1:n.744C>G, NM_001166621.1:c.*257C>G, NR_030697.1:n.684C>G

Select item 145376253115.

rs1453762531 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:7930370 (GRCh38)
17:7833688 (GRCh37)
Canonical SPDI:: NC_000017.11:7930369:C:G
Gene:: KCNAB3 (Varview), TRAPPC1 (Varview), CNTROB (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.7930370C>G, NC_000017.10:g.7833688C>G, NG_029754.1:g.3247C>G, NM_021210.5:c.*236G>C, NM_021210.4:c.*236G>C, NR_030684.2:n.720G>C, NR_030684.1:n.723G>C, NM_001166621.1:c.*236G>C, NR_030697.1:n.663G>C

Select item 144223113816.

rs1442231138 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:7930388 (GRCh38)
17:7833706 (GRCh37)
Canonical SPDI:: NC_000017.11:7930387:T:C
Gene:: KCNAB3 (Varview), TRAPPC1 (Varview), CNTROB (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.7930388T>C, NC_000017.10:g.7833706T>C, NG_029754.1:g.3265T>C, NM_021210.5:c.*218A>G, NM_021210.4:c.*218A>G, NR_030684.2:n.702A>G, NR_030684.1:n.705A>G, NM_001166621.1:c.*218A>G, NR_030697.1:n.645A>G

Select item 143625995517.

rs1436259955 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7930604 (GRCh38)
17:7833922 (GRCh37)
Canonical SPDI:: NC_000017.11:7930603:C:T
Gene:: KCNAB3 (Varview), TRAPPC1 (Varview), CNTROB (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.7930604C>T, NC_000017.10:g.7833922C>T, NG_029754.1:g.3481C>T, NM_021210.5:c.*2G>A, NM_021210.4:c.*2G>A, NR_030684.2:n.486G>A, NR_030684.1:n.489G>A, NM_001166621.1:c.*2G>A, NR_030697.1:n.429G>A

Select item 143485847418.

rs1434858474 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7930546 (GRCh38)
17:7833864 (GRCh37)
Canonical SPDI:: NC_000017.11:7930545:C:T
Gene:: KCNAB3 (Varview), TRAPPC1 (Varview), CNTROB (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7930546C>T, NC_000017.10:g.7833864C>T, NG_029754.1:g.3423C>T, NM_021210.5:c.*60G>A, NM_021210.4:c.*60G>A, NR_030684.2:n.544G>A, NR_030684.1:n.547G>A, NM_001166621.1:c.*60G>A, NR_030697.1:n.487G>A

Select item 143136202519.

rs1431362025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7931097 (GRCh38)
17:7834415 (GRCh37)
Canonical SPDI:: NC_000017.11:7931096:C:T
Gene:: KCNAB3 (Varview), TRAPPC1 (Varview), CNTROB (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_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_000017.11:g.7931097C>T, NC_000017.10:g.7834415C>T, NG_029754.1:g.3974C>T, NM_021210.5:c.223G>A, NM_021210.4:c.223G>A, NR_030684.2:n.269G>A, NR_030684.1:n.272G>A, NM_001166621.1:c.223G>A, NR_030697.1:n.212G>A, NP_067033.1:p.Glu75Lys, NP_001160093.1:p.Glu75Lys

Select item 142975717820.

rs1429757178 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7931073 (GRCh38)
17:7834391 (GRCh37)
Canonical SPDI:: NC_000017.11:7931072:C:T
Gene:: KCNAB3 (Varview), TRAPPC1 (Varview), CNTROB (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7931073C>T, NC_000017.10:g.7834391C>T, NG_029754.1:g.3950C>T, NM_021210.5:c.247G>A, NM_021210.4:c.247G>A, NR_030684.2:n.293G>A, NR_030684.1:n.296G>A, NM_001166621.1:c.247G>A, NR_030697.1:n.236G>A, NP_067033.1:p.Val83Ile, NP_001160093.1:p.Val83Ile

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