SNP Links for Gene (Select 118425) - SNP

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Links from Gene

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Select item 14912944041.

rs1491294404 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:79829958 (GRCh38)
4:80751113 (GRCh37)
Canonical SPDI:: NC_000004.12:79829958:T:TT
Gene:: PCAT4 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000004.12:g.79829959dup, NC_000004.11:g.80751113dup

Select item 14910914092.

rs1491091409 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 4:79829960 (GRCh38)
4:80751114 (GRCh37)
Canonical SPDI:: NC_000004.12:79829957:CTCT:CT
Gene:: PCAT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.79829958CT[1], NC_000004.11:g.80751112CT[1]

Select item 14910368893.

rs1491036889 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 4:79851194 (GRCh38)
4:80772348 (GRCh37)
Canonical SPDI:: NC_000004.12:79851193:TG:
Gene:: PCAT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00061/1 (Korea1K)
HGVS:: NC_000004.12:g.79851194_79851195del, NC_000004.11:g.80772348_80772349del

Select item 14909983104.

rs1490998310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:79859211 (GRCh38)
4:80780365 (GRCh37)
Canonical SPDI:: NC_000004.12:79859210:G:A
Gene:: PCAT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.79859211G>A, NC_000004.11:g.80780365G>A

Select item 14909121995.

rs1490912199 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAT>- [Show Flanks]
Chromosome:: 4:79842681 (GRCh38)
4:80763835 (GRCh37)
Canonical SPDI:: NC_000004.12:79842674:TATTATTAT:TATTAT
Gene:: PCAT4 (Varview), LOC124900174 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TATTAT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.79842675TAT[2], NC_000004.11:g.80763829TAT[2]

Select item 14908787776.

rs1490878777 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:79827485 (GRCh38)
4:80748639 (GRCh37)
Canonical SPDI:: NC_000004.12:79827484:A:G
Gene:: PCAT4 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.79827485A>G, NC_000004.11:g.80748639A>G, NM_058168.2:c.-23A>G, NR_026555.1:n.15A>G

Select item 14908696387.

rs1490869638 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:79826179 (GRCh38)
4:80747333 (GRCh37)
Canonical SPDI:: NC_000004.12:79826178:G:A
Gene:: PCAT4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.79826179G>A, NC_000004.11:g.80747333G>A

Select item 14908423648.

rs1490842364 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:79828562 (GRCh38)
4:80749716 (GRCh37)
Canonical SPDI:: NC_000004.12:79828561:A:G
Gene:: PCAT4 (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_000004.12:g.79828562A>G, NC_000004.11:g.80749716A>G

Select item 14907788609.

rs1490778860 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:79843426 (GRCh38)
4:80764580 (GRCh37)
Canonical SPDI:: NC_000004.12:79843425:T:C
Gene:: PCAT4 (Varview), LOC124900174 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.79843426T>C, NC_000004.11:g.80764580T>C

Select item 149073594010.

rs1490735940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:79840301 (GRCh38)
4:80761455 (GRCh37)
Canonical SPDI:: NC_000004.12:79840300:C:A,NC_000004.12:79840300:C:T
Gene:: PCAT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000022/3 (GnomAD)
HGVS:: NC_000004.12:g.79840301C>A, NC_000004.12:g.79840301C>T, NC_000004.11:g.80761455C>A, NC_000004.11:g.80761455C>T

Select item 149054545611.

rs1490545456 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:79850690 (GRCh38)
4:80771844 (GRCh37)
Canonical SPDI:: NC_000004.12:79850689:A:G
Gene:: PCAT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.79850690A>G, NC_000004.11:g.80771844A>G

Select item 149050677512.

rs1490506775 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:79858050 (GRCh38)
4:80779204 (GRCh37)
Canonical SPDI:: NC_000004.12:79858049:G:A
Gene:: PCAT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.79858050G>A, NC_000004.11:g.80779204G>A

Select item 149045552713.

rs1490455527 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:79860379 (GRCh38)
4:80781534 (GRCh37)
Canonical SPDI:: NC_000004.12:79860379:AAAAAAA:AAAAAAAA
Gene:: PCAT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.79860386dup, NC_000004.11:g.80781540dup

Select item 149042095714.

rs1490420957 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 4:79843017 (GRCh38)
4:80764171 (GRCh37)
Canonical SPDI:: NC_000004.12:79843016:AAA:AA
Gene:: PCAT4 (Varview), LOC124900174 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.79843019del, NC_000004.11:g.80764173del

Select item 149035257815.

rs1490352578 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:79829111 (GRCh38)
4:80750265 (GRCh37)
Canonical SPDI:: NC_000004.12:79829110:C:T
Gene:: PCAT4 (Varview)
Functional Consequence:: intron_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_000004.12:g.79829111C>T, NC_000004.11:g.80750265C>T

Select item 149030051216.

rs1490300512 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:79859913 (GRCh38)
4:80781067 (GRCh37)
Canonical SPDI:: NC_000004.12:79859912:A:G
Gene:: PCAT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.79859913A>G, NC_000004.11:g.80781067A>G

Select item 149028850017.

rs1490288500 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:79843825 (GRCh38)
4:80764979 (GRCh37)
Canonical SPDI:: NC_000004.12:79843824:A:G
Gene:: PCAT4 (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_000004.12:g.79843825A>G, NC_000004.11:g.80764979A>G

Select item 149018119618.

rs1490181196 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:79836523 (GRCh38)
4:80757677 (GRCh37)
Canonical SPDI:: NC_000004.12:79836522:T:C
Gene:: PCAT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.79836523T>C, NC_000004.11:g.80757677T>C

Select item 149012515519.

rs1490125155 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:79860125 (GRCh38)
4:80781279 (GRCh37)
Canonical SPDI:: NC_000004.12:79860124:G:A
Gene:: PCAT4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.79860125G>A, NC_000004.11:g.80781279G>A

Select item 149012354420.

rs1490123544 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>C
Chromosome:: no mapping
Canonical SPDI:

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