SNP Links for Gene (Select 285512) - SNP

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Select item 14915763321.

rs1491576332 has merged into rs11314204 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 4:88711542 (GRCh38)
4:89632693 (GRCh37)
Canonical SPDI:: NC_000004.12:88711532:TTTTTTTTTTT:TTTTTTTTT,NC_000004.12:88711532:TTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:88711532:TTTTTTTTTTT:TTTTTTTTTTTT
Gene:: FAM13A-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.0172/45 (1000Genomes)
-=0.2505/250 (GoNL)
-=0.2582/995 (ALSPAC)
-=0.2678/993 (TWINSUK)
-=0.2833/170 (NorthernSweden)
-=0.4/16 (GENOME_DK)
HGVS:: NC_000004.12:g.88711542_88711543del, NC_000004.12:g.88711543del, NC_000004.12:g.88711543dup, NC_000004.11:g.89632693_89632694del, NC_000004.11:g.89632694del, NC_000004.11:g.89632694dup

Select item 14914892692.

rs1491489269 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 4:88726300 (GRCh38)
4:89647451 (GRCh37)
Canonical SPDI:: NC_000004.12:88726299:AA:
Gene:: FAM13A (Varview), FAM13A-AS1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.88726300_88726301del, NC_000004.11:g.89647451_89647452del, NM_014883.4:c.*2232_*2233del, NM_014883.3:c.*2232_*2233del, XM_005262683.4:c.*2232_*2233del, XM_005262683.3:c.*2232_*2233del, XM_005262683.2:c.*2232_*2233del, XM_011531519.4:c.*2232_*2233del, XM_011531519.3:c.*2232_*2233del, XM_011531519.2:c.*2232_*2233del, XM_011531519.1:c.*2232_*2233del, XM_006714057.4:c.*2232_*2233del, XM_006714057.3:c.*2232_*2233del, XM_006714057.2:c.*2232_*2233del, XM_011531517.3:c.*2232_*2233del, XM_011531517.2:c.*2232_*2233del, XM_011531517.1:c.*2232_*2233del, XM_017007624.3:c.*2232_*2233del, XM_017007624.2:c.*2232_*2233del, XM_017007624.1:c.*2232_*2233del, XM_017007633.3:c.*2232_*2233del, XM_017007633.2:c.*2232_*2233del, XM_017007633.1:c.*2232_*2233del, NM_001015045.3:c.*2232_*2233del, NM_001015045.2:c.*2232_*2233del, XM_017007634.3:c.*2232_*2233del, XM_017007634.2:c.*2232_*2233del, XM_017007634.1:c.*2232_*2233del, XM_011531516.2:c.*2232_*2233del, XM_011531516.1:c.*2232_*2233del, XM_011531518.2:c.*2232_*2233del, XM_011531518.1:c.*2232_*2233del, NM_001265578.2:c.*2232_*2233del, NM_001265578.1:c.*2232_*2233del, NM_001265580.2:c.*2232_*2233del, NM_001265580.1:c.*2232_*2233del, NM_001265579.2:c.*2232_*2233del, NM_001265579.1:c.*2232_*2233del, XM_047449480.1:c.*2232_*2233del, XM_047449479.1:c.*2232_*2233del, XM_047449482.1:c.*2232_*2233del, XM_047449481.1:c.*2232_*2233del, XM_017007625.1:c.*2232_*2233del, XM_047449483.1:c.*2232_*2233del, XM_017007626.1:c.*2232_*2233del, XM_047449484.1:c.*2232_*2233del, XM_047449485.1:c.*2232_*2233del, XM_047449487.1:c.*2232_*2233del

Select item 14914710653.

rs1491471065 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:88726641 (GRCh38)
4:89647792 (GRCh37)
Canonical SPDI:: NC_000004.12:88726640:TA:
Gene:: FAM13A (Varview), FAM13A-AS1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.88726641_88726642del, NC_000004.11:g.89647792_89647793del, NM_014883.4:c.*1891_*1892del, NM_014883.3:c.*1891_*1892del, XM_005262683.4:c.*1891_*1892del, XM_005262683.3:c.*1891_*1892del, XM_005262683.2:c.*1891_*1892del, XM_005262683.1:c.*1891_*1892del, XM_011531519.4:c.*1891_*1892del, XM_011531519.3:c.*1891_*1892del, XM_011531519.2:c.*1891_*1892del, XM_011531519.1:c.*1891_*1892del, XM_006714057.4:c.*1891_*1892del, XM_006714057.3:c.*1891_*1892del, XM_006714057.2:c.*1891_*1892del, XM_006714057.1:c.*1891_*1892del, XM_011531517.3:c.*1891_*1892del, XM_011531517.2:c.*1891_*1892del, XM_011531517.1:c.*1891_*1892del, XM_017007624.3:c.*1891_*1892del, XM_017007624.2:c.*1891_*1892del, XM_017007624.1:c.*1891_*1892del, XM_017007633.3:c.*1891_*1892del, XM_017007633.2:c.*1891_*1892del, XM_017007633.1:c.*1891_*1892del, NM_001015045.3:c.*1891_*1892del, NM_001015045.2:c.*1891_*1892del, XM_017007634.3:c.*1891_*1892del, XM_017007634.2:c.*1891_*1892del, XM_017007634.1:c.*1891_*1892del, XM_011531516.2:c.*1891_*1892del, XM_011531516.1:c.*1891_*1892del, XM_011531518.2:c.*1891_*1892del, XM_011531518.1:c.*1891_*1892del, NM_001265578.2:c.*1891_*1892del, NM_001265578.1:c.*1891_*1892del, NM_001265580.2:c.*1891_*1892del, NM_001265580.1:c.*1891_*1892del, NM_001265579.2:c.*1891_*1892del, NM_001265579.1:c.*1891_*1892del, XM_047449480.1:c.*1891_*1892del, XM_047449479.1:c.*1891_*1892del, XM_047449482.1:c.*1891_*1892del, XM_047449481.1:c.*1891_*1892del, XM_017007625.1:c.*1891_*1892del, XM_047449483.1:c.*1891_*1892del, XM_017007626.1:c.*1891_*1892del, XM_047449484.1:c.*1891_*1892del, XM_047449485.1:c.*1891_*1892del, XM_047449487.1:c.*1891_*1892del

Select item 14914381064.

rs1491438106 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 4:88729059 (GRCh38)
4:89650210 (GRCh37)
Canonical SPDI:: NC_000004.12:88729058:GT:
Gene:: FAM13A (Varview), FAM13A-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.88729059_88729060del, NC_000004.11:g.89650210_89650211del, NR_002806.2:n.2166_2167del

Select item 14914121285.

rs1491412128 has merged into rs111874270 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 4:88729081 (GRCh38)
4:89650232 (GRCh37)
Canonical SPDI:: NC_000004.12:88729080:CC:C,NC_000004.12:88729080:CC:CCC
Gene:: FAM13A (Varview), FAM13A-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.00193/29 (ALFA)
-=0.0121/203 (TOMMO)
HGVS:: NC_000004.12:g.88729082del, NC_000004.12:g.88729082dup, NC_000004.11:g.89650233del, NC_000004.11:g.89650233dup, NR_002806.2:n.2189del, NR_002806.2:n.2189dup

Select item 14913621856.

rs1491362185 has merged into rs893544874 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:88709270 (GRCh38)
4:89630421 (GRCh37)
Canonical SPDI:: NC_000004.12:88709260:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:88709260:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:88709260:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:88709260:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:88709260:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:88709260:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:88709260:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:88709260:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:88709260:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:88709260:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:88709260:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88709260:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88709260:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88709260:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FAM13A-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.88709270_88709276del, NC_000004.12:g.88709272_88709276del, NC_000004.12:g.88709273_88709276del, NC_000004.12:g.88709274_88709276del, NC_000004.12:g.88709275_88709276del, NC_000004.12:g.88709276del, NC_000004.12:g.88709276dup, NC_000004.12:g.88709275_88709276dup, NC_000004.12:g.88709274_88709276dup, NC_000004.12:g.88709273_88709276dup, NC_000004.12:g.88709272_88709276dup, NC_000004.12:g.88709271_88709276dup, NC_000004.12:g.88709270_88709276dup, NC_000004.12:g.88709268_88709276dup, NC_000004.11:g.89630421_89630427del, NC_000004.11:g.89630423_89630427del, NC_000004.11:g.89630424_89630427del, NC_000004.11:g.89630425_89630427del, NC_000004.11:g.89630426_89630427del, NC_000004.11:g.89630427del, NC_000004.11:g.89630427dup, NC_000004.11:g.89630426_89630427dup, NC_000004.11:g.89630425_89630427dup, NC_000004.11:g.89630424_89630427dup, NC_000004.11:g.89630423_89630427dup, NC_000004.11:g.89630422_89630427dup, NC_000004.11:g.89630421_89630427dup, NC_000004.11:g.89630419_89630427dup

Select item 14912489477.

rs1491248947 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 4:88729080 (GRCh38)
4:89650231 (GRCh37)
Canonical SPDI:: NC_000004.12:88729079:TC:
Gene:: FAM13A (Varview), FAM13A-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000422/5 (ALFA)
-=0.000704/97 (GnomAD)
-=0.003821/7 (Korea1K)
HGVS:: NC_000004.12:g.88729080_88729081del, NC_000004.11:g.89650231_89650232del, NR_002806.2:n.2187_2188del

Select item 14912170888.

rs1491217088 has merged into rs200661751 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 4:88719647 (GRCh38)
4:89640798 (GRCh37)
Canonical SPDI:: NC_000004.12:88719644:TTTT:TT,NC_000004.12:88719644:TTTT:TTT
Gene:: FAM13A-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
-=0.00009/1 (TOMMO)
HGVS:: NC_000004.12:g.88719647_88719648del, NC_000004.12:g.88719648del, NC_000004.11:g.89640798_89640799del, NC_000004.11:g.89640799del

Select item 14911992719.

rs1491199271 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AAA [Show Flanks]
Chromosome:: 4:88709259 (GRCh38)
4:89630411 (GRCh37)
Canonical SPDI:: NC_000004.12:88709259::A,NC_000004.12:88709259::AA,NC_000004.12:88709259::AAA
Gene:: FAM13A-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000004.12:g.88709259_88709260insA, NC_000004.12:g.88709259_88709260insAA, NC_000004.12:g.88709259_88709260insAAA, NC_000004.11:g.89630410_89630411insA, NC_000004.11:g.89630410_89630411insAA, NC_000004.11:g.89630410_89630411insAAA

Select item 149119428910.

rs1491194289 [Homo sapiens]

Variant type:: SNV:
Alleles:: GC>-
Chromosome:: no mapping
Canonical SPDI:

Select item 149116571211.

rs1491165712 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 4:88726652 (GRCh38)
4:89647803 (GRCh37)
Canonical SPDI:: NC_000004.12:88726651:AA:A,NC_000004.12:88726651:AA:AAA
Gene:: FAM13A (Varview), FAM13A-AS1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.88726653del, NC_000004.12:g.88726653dup, NC_000004.11:g.89647804del, NC_000004.11:g.89647804dup, NM_014883.4:c.*1881del, NM_014883.4:c.*1881dup, NM_014883.3:c.*1881del, NM_014883.3:c.*1881dup, XM_005262683.4:c.*1881del, XM_005262683.4:c.*1881dup, XM_005262683.3:c.*1881del, XM_005262683.3:c.*1881dup, XM_005262683.2:c.*1881del, XM_005262683.2:c.*1881dup, XM_005262683.1:c.*1881del, XM_005262683.1:c.*1881dup, XM_011531519.4:c.*1881del, XM_011531519.4:c.*1881dup, XM_011531519.3:c.*1881del, XM_011531519.3:c.*1881dup, XM_011531519.2:c.*1881del, XM_011531519.2:c.*1881dup, XM_011531519.1:c.*1881del, XM_011531519.1:c.*1881dup, XM_006714057.4:c.*1881del, XM_006714057.4:c.*1881dup, XM_006714057.3:c.*1881del, XM_006714057.3:c.*1881dup, XM_006714057.2:c.*1881del, XM_006714057.2:c.*1881dup, XM_006714057.1:c.*1881del, XM_006714057.1:c.*1881dup, XM_011531517.3:c.*1881del, XM_011531517.3:c.*1881dup, XM_011531517.2:c.*1881del, XM_011531517.2:c.*1881dup, XM_011531517.1:c.*1881del, XM_011531517.1:c.*1881dup, XM_017007624.3:c.*1881del, XM_017007624.3:c.*1881dup, XM_017007624.2:c.*1881del, XM_017007624.2:c.*1881dup, XM_017007624.1:c.*1881del, XM_017007624.1:c.*1881dup, XM_017007633.3:c.*1881del, XM_017007633.3:c.*1881dup, XM_017007633.2:c.*1881del, XM_017007633.2:c.*1881dup, XM_017007633.1:c.*1881del, XM_017007633.1:c.*1881dup, NM_001015045.3:c.*1881del, NM_001015045.3:c.*1881dup, NM_001015045.2:c.*1881del, NM_001015045.2:c.*1881dup, XM_017007634.3:c.*1881del, XM_017007634.3:c.*1881dup, XM_017007634.2:c.*1881del, XM_017007634.2:c.*1881dup, XM_017007634.1:c.*1881del, XM_017007634.1:c.*1881dup, XM_011531516.2:c.*1881del, XM_011531516.2:c.*1881dup, XM_011531516.1:c.*1881del, XM_011531516.1:c.*1881dup, XM_011531518.2:c.*1881del, XM_011531518.2:c.*1881dup, XM_011531518.1:c.*1881del, XM_011531518.1:c.*1881dup, NM_001265578.2:c.*1881del, NM_001265578.2:c.*1881dup, NM_001265578.1:c.*1881del, NM_001265578.1:c.*1881dup, NM_001265580.2:c.*1881del, NM_001265580.2:c.*1881dup, NM_001265580.1:c.*1881del, NM_001265580.1:c.*1881dup, NM_001265579.2:c.*1881del, NM_001265579.2:c.*1881dup, NM_001265579.1:c.*1881del, NM_001265579.1:c.*1881dup, XM_047449480.1:c.*1881del, XM_047449480.1:c.*1881dup, XM_047449479.1:c.*1881del, XM_047449479.1:c.*1881dup, XM_047449482.1:c.*1881del, XM_047449482.1:c.*1881dup, XM_047449481.1:c.*1881del, XM_047449481.1:c.*1881dup, XM_017007625.1:c.*1881del, XM_017007625.1:c.*1881dup, XM_047449483.1:c.*1881del, XM_047449483.1:c.*1881dup, XM_017007626.1:c.*1881del, XM_017007626.1:c.*1881dup, XM_047449484.1:c.*1881del, XM_047449484.1:c.*1881dup, XM_047449485.1:c.*1881del, XM_047449485.1:c.*1881dup, XM_047449487.1:c.*1881del, XM_047449487.1:c.*1881dup

Select item 149109022012.

rs1491090220 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:88711532 (GRCh38)
4:89632683 (GRCh37)
Canonical SPDI:: NC_000004.12:88711531:AT:
Gene:: FAM13A-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.88711532_88711533del, NC_000004.11:g.89632683_89632684del

Select item 149104347513.

rs1491043475 has merged into rs145824356 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 4:88712552 (GRCh38)
4:89633703 (GRCh37)
Canonical SPDI:: NC_000004.12:88712541:TTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:88712541:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:88712541:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:88712541:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:88712541:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:88712541:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: FAM13A-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.131552/507 (ALSPAC)
T=0.135/81 (NorthernSweden)
T=0.148598/551 (TWINSUK)
T=0.175/7 (GENOME_DK)
T=0.179399/47485 (TOPMED)
T=0.183506/919 (1000Genomes)
HGVS:: NC_000004.12:g.88712552_88712553del, NC_000004.12:g.88712553del, NC_000004.12:g.88712553dup, NC_000004.12:g.88712552_88712553dup, NC_000004.12:g.88712551_88712553dup, NC_000004.12:g.88712550_88712553dup, NC_000004.11:g.89633703_89633704del, NC_000004.11:g.89633704del, NC_000004.11:g.89633704dup, NC_000004.11:g.89633703_89633704dup, NC_000004.11:g.89633702_89633704dup, NC_000004.11:g.89633701_89633704dup

Select item 149103240414.

rs1491032404 has merged into rs1431161174 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 4:88709277 (GRCh38)
4:89630428 (GRCh37)
Canonical SPDI:: NC_000004.12:88709275:AGA:A,NC_000004.12:88709275:AGA:AGAGA
Gene:: FAM13A-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.88709277_88709278del, NC_000004.12:g.88709277_88709278dup, NC_000004.11:g.89630428_89630429del, NC_000004.11:g.89630428_89630429dup

Select item 149091474315.

rs1490914743 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:88717208 (GRCh38)
4:89638359 (GRCh37)
Canonical SPDI:: NC_000004.12:88717207:T:G
Gene:: FAM13A-AS1 (Varview)
Functional Consequence:: intron_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_000004.12:g.88717208T>G, NC_000004.11:g.89638359T>G

Select item 149086151916.

rs1490861519 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:88715312 (GRCh38)
4:89636463 (GRCh37)
Canonical SPDI:: NC_000004.12:88715311:T:C
Gene:: FAM13A-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.88715312T>C, NC_000004.11:g.89636463T>C

Select item 149085403117.

rs1490854031 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:88716971 (GRCh38)
4:89638122 (GRCh37)
Canonical SPDI:: NC_000004.12:88716970:T:C
Gene:: FAM13A-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.88716971T>C, NC_000004.11:g.89638122T>C

Select item 149080768018.

rs1490807680 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:88725750 (GRCh38)
4:89646901 (GRCh37)
Canonical SPDI:: NC_000004.12:88725749:T:C
Gene:: FAM13A (Varview), FAM13A-AS1 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.88725750T>C, NC_000004.11:g.89646901T>C

Select item 149078453719.

rs1490784537 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTC [Show Flanks]
Chromosome:: 4:88724764 (GRCh38)
4:89645916 (GRCh37)
Canonical SPDI:: NC_000004.12:88724764:GTC:GTCGTC
Gene:: FAM13A-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTCGTC=0./0 (ALFA)
GTC=0.000014/2 (GnomAD)
GTC=0.000023/6 (TOPMED)
HGVS:: NC_000004.12:g.88724765_88724767dup, NC_000004.11:g.89645916_89645918dup

Select item 149075427920.

rs1490754279 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:88709166 (GRCh38)
4:89630317 (GRCh37)
Canonical SPDI:: NC_000004.12:88709165:A:G
Gene:: FAM13A-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.88709166A>G, NC_000004.11:g.89630317A>G

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