SNP Links for Gene (Select 100128553) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 20 of 835

<< First< Prev

Page of 42

Next >Last >>

Select item 14906886951.

rs1490688695 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:144181552 (GRCh38)
7:143878645 (GRCh37)
Canonical SPDI:: NC_000007.14:144181551:T:C
Gene:: CTAGE4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000169/2 (ALFA)
C=0.000155/20 (GnomAD)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000007.14:g.144181552T>C, NC_000007.13:g.143878645T>C, NW_018654715.1:g.136117T>C

Select item 14906704072.

rs1490670407 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:144186471 (GRCh38)
7:143883564 (GRCh37)
Canonical SPDI:: NC_000007.14:144186470:A:C
Gene:: ARHGEF35 (Varview), CTAGE4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00004/4 (GnomAD)
C=0.00368/2 (NorthernSweden)
HGVS:: NC_000007.14:g.144186471A>C, NC_000007.13:g.143883564A>C, NW_018654715.1:g.141036A>C, NM_001003702.3:c.*458T>G, NM_001003702.2:c.*458T>G, NM_001368318.1:c.*458T>G

Select item 14906547513.

rs1490654751 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 7:144186246 (GRCh38)
7:143883339 (GRCh37)
Canonical SPDI:: NC_000007.14:144186245:C:A,NC_000007.14:144186245:C:G
Gene:: ARHGEF35 (Varview), CTAGE4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000084/1 (ALFA)
G=0.000094/12 (GnomAD)
A=0.000343/1 (KOREAN)
HGVS:: NC_000007.14:g.144186246C>A, NC_000007.14:g.144186246C>G, NC_000007.13:g.143883339C>A, NC_000007.13:g.143883339C>G, NW_018654715.1:g.140811C>A, NW_018654715.1:g.140811C>G, NM_001003702.3:c.*683G>T, NM_001003702.3:c.*683G>C, NM_001003702.2:c.*683G>T, NM_001003702.2:c.*683G>C, NM_001368318.1:c.*683G>T, NM_001368318.1:c.*683G>C

Select item 14905217844.

rs1490521784 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:144182715 (GRCh38)
7:143879808 (GRCh37)
Canonical SPDI:: NC_000007.14:144182714:C:A
Gene:: CTAGE4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00185/22 (ALFA)
A=0.00005/1 (TOMMO)
HGVS:: NC_000007.14:g.144182715C>A, NC_000007.13:g.143879808C>A, NW_018654715.1:g.137280C>A

Select item 14894922455.

rs1489492245 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:144186398 (GRCh38)
7:143883491 (GRCh37)
Canonical SPDI:: NC_000007.14:144186397:T:C
Gene:: ARHGEF35 (Varview), CTAGE4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.00008/1 (ALFA)
HGVS:: NC_000007.14:g.144186398T>C, NC_000007.13:g.143883491T>C, NW_018654715.1:g.140963T>C, NM_001003702.3:c.*531A>G, NM_001003702.2:c.*531A>G, NM_001368318.1:c.*531A>G

Select item 14893316076.

rs1489331607 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:144182306 (GRCh38)
7:143879399 (GRCh37)
Canonical SPDI:: NC_000007.14:144182305:T:C
Gene:: CTAGE4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.144182306T>C, NC_000007.13:g.143879399T>C, NW_018654715.1:g.136871T>C

Select item 14886286057.

rs1488628605 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:144181965 (GRCh38)
7:143879058 (GRCh37)
Canonical SPDI:: NC_000007.14:144181964:G:T
Gene:: CTAGE4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.144181965G>T, NC_000007.13:g.143879058G>T, NW_018654715.1:g.136530G>T

Select item 14881468488.

rs1488146848 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:144185718 (GRCh38)
7:143882811 (GRCh37)
Canonical SPDI:: NC_000007.14:144185717:C:G,NC_000007.14:144185717:C:T
Gene:: ARHGEF35 (Varview), CTAGE4 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000049/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.144185718C>G, NC_000007.14:g.144185718C>T, NC_000007.13:g.143882811C>G, NC_000007.13:g.143882811C>T, NW_018654715.1:g.140283C>G, NW_018654715.1:g.140283C>T, NM_198495.3:c.2215C>G, NM_198495.3:c.2215C>T, NM_198495.2:c.2215C>G, NM_198495.2:c.2215C>T, NP_940897.2:p.Pro739Ala, NP_940897.2:p.Pro739Ser

Select item 14876296839.

rs1487629683 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:144184564 (GRCh38)
7:143881657 (GRCh37)
Canonical SPDI:: NC_000007.14:144184563:A:G
Gene:: CTAGE4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00008/1 (ALFA)
G=0.00015/2 (GnomAD)
HGVS:: NC_000007.14:g.144184564A>G, NC_000007.13:g.143881657A>G, NW_018654715.1:g.139129A>G, NM_198495.3:c.1061A>G, NM_198495.2:c.1061A>G, NP_940897.2:p.Glu354Gly

Select item 148760585610.

rs1487605856 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:144186484 (GRCh38)
7:143883577 (GRCh37)
Canonical SPDI:: NC_000007.14:144186483:G:A,NC_000007.14:144186483:G:C
Gene:: ARHGEF35 (Varview), CTAGE4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000041/1 (TOMMO)
HGVS:: NC_000007.14:g.144186484G>A, NC_000007.14:g.144186484G>C, NC_000007.13:g.143883577G>A, NC_000007.13:g.143883577G>C, NW_018654715.1:g.141049G>A, NW_018654715.1:g.141049G>C, NM_001003702.3:c.*445C>T, NM_001003702.3:c.*445C>G, NM_001003702.2:c.*445C>T, NM_001003702.2:c.*445C>G, NM_001368318.1:c.*445C>T, NM_001368318.1:c.*445C>G

Select item 148735283411.

rs1487352834 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:144181486 (GRCh38)
7:143878579 (GRCh37)
Canonical SPDI:: NC_000007.14:144181485:C:T
Gene:: CTAGE4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.144181486C>T, NC_000007.13:g.143878579C>T, NW_018654715.1:g.136051C>T

Select item 148689800012.

rs1486898000 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAT>- [Show Flanks]
Chromosome:: 7:144182234 (GRCh38)
7:143879327 (GRCh37)
Canonical SPDI:: NC_000007.14:144182231:ATCAT:AT
Gene:: CTAGE4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AT=0./0 (ALFA)
HGVS:: NC_000007.14:g.144182234_144182236del, NC_000007.13:g.143879327_143879329del, NW_018654715.1:g.136799_136801del

Select item 148686775413.

rs1486867754 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:144186228 (GRCh38)
7:143883321 (GRCh37)
Canonical SPDI:: NC_000007.14:144186227:G:C
Gene:: ARHGEF35 (Varview), CTAGE4 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000759/9 (ALFA)
C=0.000065/8 (GnomAD)
HGVS:: NC_000007.14:g.144186228G>C, NC_000007.13:g.143883321G>C, NW_018654715.1:g.140793G>C, NM_001003702.3:c.*701C>G, NM_001003702.2:c.*701C>G, NM_001368318.1:c.*701C>G

Select item 148648195914.

rs1486481959 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:144186193 (GRCh38)
7:143883286 (GRCh37)
Canonical SPDI:: NC_000007.14:144186192:T:C
Gene:: ARHGEF35 (Varview), CTAGE4 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000018/2 (GnomAD)
HGVS:: NC_000007.14:g.144186193T>C, NC_000007.13:g.143883286T>C, NW_018654715.1:g.140758T>C, NM_001003702.3:c.*736A>G, NM_001003702.2:c.*736A>G, NM_001368318.1:c.*736A>G

Select item 148641070515.

rs1486410705 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:144185863 (GRCh38)
7:143882956 (GRCh37)
Canonical SPDI:: NC_000007.14:144185862:T:A,NC_000007.14:144185862:T:C
Gene:: ARHGEF35 (Varview), CTAGE4 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00001/1 (GnomAD)
C=0.00009/6 (GnomAD_exomes)
HGVS:: NC_000007.14:g.144185863T>A, NC_000007.14:g.144185863T>C, NC_000007.13:g.143882956T>A, NC_000007.13:g.143882956T>C, NW_018654715.1:g.140428T>A, NW_018654715.1:g.140428T>C, NM_198495.3:c.*26T>A, NM_198495.3:c.*26T>C, NM_198495.2:c.*26T>A, NM_198495.2:c.*26T>C

Select item 148638063216.

rs1486380632 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:144184991 (GRCh38)
7:143882084 (GRCh37)
Canonical SPDI:: NC_000007.14:144184990:A:T
Gene:: CTAGE4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.144184991A>T, NC_000007.13:g.143882084A>T, NW_018654715.1:g.139556A>T, NM_198495.3:c.1488A>T, NM_198495.2:c.1488A>T, NP_940897.2:p.Lys496Asn

Select item 148615760217.

rs1486157602 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:144185758 (GRCh38)
7:143882851 (GRCh37)
Canonical SPDI:: NC_000007.14:144185757:T:A,NC_000007.14:144185757:T:C
Gene:: ARHGEF35 (Varview), CTAGE4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.144185758T>A, NC_000007.14:g.144185758T>C, NC_000007.13:g.143882851T>A, NC_000007.13:g.143882851T>C, NW_018654715.1:g.140323T>A, NW_018654715.1:g.140323T>C, NM_198495.3:c.2255T>A, NM_198495.3:c.2255T>C, NM_198495.2:c.2255T>A, NM_198495.2:c.2255T>C, NP_940897.2:p.Met752Lys, NP_940897.2:p.Met752Thr

Select item 148608804518.

rs1486088045 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:144184082 (GRCh38)
7:143881175 (GRCh37)
Canonical SPDI:: NC_000007.14:144184081:C:T
Gene:: CTAGE4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.144184082C>T, NC_000007.13:g.143881175C>T, NW_018654715.1:g.138647C>T, NM_198495.3:c.579C>T, NM_198495.2:c.579C>T

Select item 148605437519.

rs1486054375 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 7:144185591 (GRCh38)
7:143882685 (GRCh37)
Canonical SPDI:: NC_000007.14:144185591:CC:CCC
Gene:: ARHGEF35 (Varview), CTAGE4 (Varview)
Functional Consequence:: downstream_transcript_variant,frameshift_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
HGVS:: NC_000007.14:g.144185593dup, NC_000007.13:g.143882686dup, NW_018654715.1:g.140158dup, NM_198495.3:c.2090dup, NM_198495.2:c.2090dup, NP_940897.2:p.Leu698fs

Select item 148536279320.

rs1485362793 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:144183203 (GRCh38)
7:143880296 (GRCh37)
Canonical SPDI:: NC_000007.14:144183202:A:T
Gene:: CTAGE4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.144183203A>T, NC_000007.13:g.143880296A>T, NW_018654715.1:g.137768A>T