SNP Links for Gene (Select 594840) - SNP

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Select item 14915463041.

rs1491546304 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:134596993 (GRCh38)
8:135609237 (GRCh37)
Canonical SPDI:: NC_000008.11:134596993::G
Gene:: ZFAT (Varview), ZFAT-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000017/1 (GnomAD)
HGVS:: NC_000008.11:g.134596993_134596994insG, NC_000008.10:g.135609236_135609237insG, NG_016356.2:g.121056_121057insC

Select item 14898795472.

rs1489879547 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:134600613 (GRCh38)
8:135612856 (GRCh37)
Canonical SPDI:: NC_000008.11:134600612:C:A
Gene:: ZFAT (Varview), ZFAT-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000042/11 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000008.11:g.134600613C>A, NC_000008.10:g.135612856C>A, NG_016356.2:g.117437G>T, NM_001029939.4:c.2262G>T, NM_001029939.3:c.2262G>T, NM_020863.4:c.2298G>T, NM_020863.3:c.2298G>T, NM_001167583.3:c.2262G>T, NM_001167583.2:c.2262G>T, NR_110323.2:n.2466G>T, NR_110323.1:n.2484G>T, NM_001289394.2:c.2262G>T, NM_001289394.1:c.2262G>T, NM_001174157.2:c.2112G>T, NM_001174157.1:c.2112G>T, NM_001174158.2:c.2262G>T, NM_001174158.1:c.2262G>T, XM_011517204.3:c.2112G>T, XM_011517204.2:c.2112G>T, XM_011517204.1:c.2112G>T, XM_017013716.2:c.2262G>T, XM_017013716.1:c.2262G>T, XM_011517206.2:c.2262G>T, XM_011517206.1:c.2262G>T, XM_047422062.1:c.2298G>T, XM_047422063.1:c.2262G>T, XR_007060749.1:n.2279G>T, XR_007060750.1:n.2466G>T, NR_002438.1:n.863C>A

Select item 14894566003.

rs1489456600 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:134596790 (GRCh38)
8:135609033 (GRCh37)
Canonical SPDI:: NC_000008.11:134596789:C:A
Gene:: ZFAT (Varview), ZFAT-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.134596790C>A, NC_000008.10:g.135609033C>A, NG_016356.2:g.121260G>T

Select item 14890704764.

rs1489070476 [Homo sapiens]

Variant type:: DEL
Alleles:: GTACTGCGTCAACA>- [Show Flanks]
Chromosome:: 8:134597202 (GRCh38)
8:135609445 (GRCh37)
Canonical SPDI:: NC_000008.11:134597201:GTACTGCGTCAACA:
Gene:: ZFAT (Varview), ZFAT-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.0072/32 (ALFA)
HGVS:: NC_000008.11:g.134597202_134597215del, NC_000008.10:g.135609445_135609458del, NG_016356.2:g.120835_120848del

Select item 14887416205.

rs1488741620 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 8:134596266 (GRCh38)
8:135608509 (GRCh37)
Canonical SPDI:: NC_000008.11:134596265:TTTTT:TTTT
Gene:: ZFAT (Varview), ZFAT-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.134596270del, NC_000008.10:g.135608513del, NG_016356.2:g.121784del

Select item 14883828366.

rs1488382836 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:134600410 (GRCh38)
8:135612653 (GRCh37)
Canonical SPDI:: NC_000008.11:134600409:G:A
Gene:: ZFAT (Varview), ZFAT-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.134600410G>A, NC_000008.10:g.135612653G>A, NG_016356.2:g.117640C>T, NR_002438.1:n.660G>A

Select item 14880316637.

rs1488031663 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 8:134597603 (GRCh38)
8:135609846 (GRCh37)
Canonical SPDI:: NC_000008.11:134597602:A:G,NC_000008.11:134597602:A:T
Gene:: ZFAT (Varview), ZFAT-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00022/1 (ALFA)
T=0.00007/1 (TOMMO)
G=0.00022/1 (Estonian)
HGVS:: NC_000008.11:g.134597603A>G, NC_000008.11:g.134597603A>T, NC_000008.10:g.135609846A>G, NC_000008.10:g.135609846A>T, NG_016356.2:g.120447T>C, NG_016356.2:g.120447T>A

Select item 14878211908.

rs1487821190 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:134596236 (GRCh38)
8:135608479 (GRCh37)
Canonical SPDI:: NC_000008.11:134596235:T:C,NC_000008.11:134596235:T:G
Gene:: ZFAT (Varview), ZFAT-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000212/4 (TOMMO)
HGVS:: NC_000008.11:g.134596236T>C, NC_000008.11:g.134596236T>G, NC_000008.10:g.135608479T>C, NC_000008.10:g.135608479T>G, NG_016356.2:g.121814A>G, NG_016356.2:g.121814A>C

Select item 14866395609.

rs1486639560 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:134597991 (GRCh38)
8:135610234 (GRCh37)
Canonical SPDI:: NC_000008.11:134597990:A:G
Gene:: ZFAT (Varview), ZFAT-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_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_000008.11:g.134597991A>G, NC_000008.10:g.135610234A>G, NG_016356.2:g.120059T>C

Select item 148631063310.

rs1486310633 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:134597579 (GRCh38)
8:135609822 (GRCh37)
Canonical SPDI:: NC_000008.11:134597578:T:A
Gene:: ZFAT (Varview), ZFAT-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.134597579T>A, NC_000008.10:g.135609822T>A, NG_016356.2:g.120471A>T

Select item 148572807311.

rs1485728073 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:134598751 (GRCh38)
8:135610994 (GRCh37)
Canonical SPDI:: NC_000008.11:134598750:A:C
Gene:: ZFAT (Varview), ZFAT-AS1 (Varview)
Functional Consequence:: intron_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_000008.11:g.134598751A>C, NC_000008.10:g.135610994A>C, NG_016356.2:g.119299T>G

Select item 148543122212.

rs1485431222 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:134600767 (GRCh38)
8:135613010 (GRCh37)
Canonical SPDI:: NC_000008.11:134600766:C:G
Gene:: ZFAT (Varview), ZFAT-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000036/5 (GnomAD)
G=0.000057/15 (TOPMED)
HGVS:: NC_000008.11:g.134600767C>G, NC_000008.10:g.135613010C>G, NG_016356.2:g.117283G>C

Select item 148406392013.

rs1484063920 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:134600348 (GRCh38)
8:135612591 (GRCh37)
Canonical SPDI:: NC_000008.11:134600347:C:A
Gene:: ZFAT (Varview), ZFAT-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000031/1 (ALFA)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000008.11:g.134600348C>A, NC_000008.10:g.135612591C>A, NG_016356.2:g.117702G>T, NR_002438.1:n.598C>A

Select item 148337149214.

rs1483371492 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:134599090 (GRCh38)
8:135611333 (GRCh37)
Canonical SPDI:: NC_000008.11:134599089:T:C
Gene:: ZFAT (Varview), ZFAT-AS1 (Varview)
Functional Consequence:: intron_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_000008.11:g.134599090T>C, NC_000008.10:g.135611333T>C, NG_016356.2:g.118960A>G

Select item 148245309915.

rs1482453099 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:134599506 (GRCh38)
8:135611749 (GRCh37)
Canonical SPDI:: NC_000008.11:134599505:C:G
Gene:: ZFAT (Varview), ZFAT-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.134599506C>G, NC_000008.10:g.135611749C>G, NG_016356.2:g.118544G>C

Select item 148162168316.

rs1481621683 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:134596318 (GRCh38)
8:135608561 (GRCh37)
Canonical SPDI:: NC_000008.11:134596317:G:T
Gene:: ZFAT (Varview), ZFAT-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000008.11:g.134596318G>T, NC_000008.10:g.135608561G>T, NG_016356.2:g.121732C>A

Select item 148055440517.

rs1480554405 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:134600590 (GRCh38)
8:135612833 (GRCh37)
Canonical SPDI:: NC_000008.11:134600589:T:C,NC_000008.11:134600589:T:G
Gene:: ZFAT (Varview), ZFAT-AS1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.134600590T>C, NC_000008.11:g.134600590T>G, NC_000008.10:g.135612833T>C, NC_000008.10:g.135612833T>G, NG_016356.2:g.117460A>G, NG_016356.2:g.117460A>C, NM_001029939.4:c.2285A>G, NM_001029939.4:c.2285A>C, NM_001029939.3:c.2285A>G, NM_001029939.3:c.2285A>C, NM_020863.4:c.2321A>G, NM_020863.4:c.2321A>C, NM_020863.3:c.2321A>G, NM_020863.3:c.2321A>C, NM_001167583.3:c.2285A>G, NM_001167583.3:c.2285A>C, NM_001167583.2:c.2285A>G, NM_001167583.2:c.2285A>C, NR_110323.2:n.2489A>G, NR_110323.2:n.2489A>C, NR_110323.1:n.2507A>G, NR_110323.1:n.2507A>C, NM_001289394.2:c.2285A>G, NM_001289394.2:c.2285A>C, NM_001289394.1:c.2285A>G, NM_001289394.1:c.2285A>C, NM_001174157.2:c.2135A>G, NM_001174157.2:c.2135A>C, NM_001174157.1:c.2135A>G, NM_001174157.1:c.2135A>C, NM_001174158.2:c.2285A>G, NM_001174158.2:c.2285A>C, NM_001174158.1:c.2285A>G, NM_001174158.1:c.2285A>C, XM_011517204.3:c.2135A>G, XM_011517204.3:c.2135A>C, XM_011517204.2:c.2135A>G, XM_011517204.2:c.2135A>C, XM_011517204.1:c.2135A>G, XM_011517204.1:c.2135A>C, XM_017013716.2:c.2285A>G, XM_017013716.2:c.2285A>C, XM_017013716.1:c.2285A>G, XM_017013716.1:c.2285A>C, XM_011517206.2:c.2285A>G, XM_011517206.2:c.2285A>C, XM_011517206.1:c.2285A>G, XM_011517206.1:c.2285A>C, XM_047422062.1:c.2321A>G, XM_047422062.1:c.2321A>C, XM_047422063.1:c.2285A>G, XM_047422063.1:c.2285A>C, XR_007060749.1:n.2302A>G, XR_007060749.1:n.2302A>C, XR_007060750.1:n.2489A>G, XR_007060750.1:n.2489A>C, NR_002438.1:n.840T>C, NR_002438.1:n.840T>G, NP_001025110.2:p.Gln762Arg, NP_001025110.2:p.Gln762Pro, NP_065914.2:p.Gln774Arg, NP_065914.2:p.Gln774Pro, NP_001161055.1:p.Gln762Arg, NP_001161055.1:p.Gln762Pro, NP_001276323.1:p.Gln762Arg, NP_001276323.1:p.Gln762Pro, NP_001167628.1:p.Gln712Arg, NP_001167628.1:p.Gln712Pro, NP_001167629.1:p.Gln762Arg, NP_001167629.1:p.Gln762Pro, XP_011515506.1:p.Gln712Arg, XP_011515506.1:p.Gln712Pro, XP_016869205.1:p.Gln762Arg, XP_016869205.1:p.Gln762Pro, XP_011515508.1:p.Gln762Arg, XP_011515508.1:p.Gln762Pro, XP_047278018.1:p.Gln774Arg, XP_047278018.1:p.Gln774Pro, XP_047278019.1:p.Gln762Arg, XP_047278019.1:p.Gln762Pro

Select item 148029963018.

rs1480299630 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:134599866 (GRCh38)
8:135612109 (GRCh37)
Canonical SPDI:: NC_000008.11:134599865:A:G
Gene:: ZFAT (Varview), ZFAT-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.134599866A>G, NC_000008.10:g.135612109A>G, NG_016356.2:g.118184T>C

Select item 147969719919.

rs1479697199 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:134597897 (GRCh38)
8:135610140 (GRCh37)
Canonical SPDI:: NC_000008.11:134597896:C:A,NC_000008.11:134597896:C:T
Gene:: ZFAT (Varview), ZFAT-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.134597897C>A, NC_000008.11:g.134597897C>T, NC_000008.10:g.135610140C>A, NC_000008.10:g.135610140C>T, NG_016356.2:g.120153G>T, NG_016356.2:g.120153G>A

Select item 147966127120.

rs1479661271 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:134600227 (GRCh38)
8:135612470 (GRCh37)
Canonical SPDI:: NC_000008.11:134600226:C:A
Gene:: ZFAT (Varview), ZFAT-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.134600227C>A, NC_000008.10:g.135612470C>A, NG_016356.2:g.117823G>T

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