SNP Links for Gene (Select 126326) - SNP

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Items: 1 to 20 of 2919

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Select item 14909952871.

rs1490995287 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:3589312 (GRCh38)
19:3589310 (GRCh37)
Canonical SPDI:: NC_000019.10:3589311:G:T
Gene:: GIPC3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.3589312G>T, NC_000019.9:g.3589310G>T, NG_031943.1:g.8742G>T

Select item 14908625312.

rs1490862531 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTTT>-,CTTTTCTTTT [Show Flanks]
Chromosome:: 19:3587695 (GRCh38)
19:3587693 (GRCh37)
Canonical SPDI:: NC_000019.10:3587680:TTTTCTTTTCTTTTCTTTT:TTTTCTTTTCTTTT,NC_000019.10:3587680:TTTTCTTTTCTTTTCTTTT:TTTTCTTTTCTTTTCTTTTCTTTT
Gene:: GIPC3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTCTTTTCTTTTCTTTTCTTTT=0./0 (ALFA)
TTTTC=0.00004/1 (TOMMO)
HGVS:: NC_000019.10:g.3587685CTTTT[2], NC_000019.10:g.3587685CTTTT[4], NC_000019.9:g.3587683CTTTT[2], NC_000019.9:g.3587683CTTTT[4], NG_031943.1:g.7115CTTTT[2], NG_031943.1:g.7115CTTTT[4]

Select item 14907267083.

rs1490726708 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:3593090 (GRCh38)
19:3593088 (GRCh37)
Canonical SPDI:: NC_000019.10:3593089:C:A
Gene:: GIPC3 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_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_000019.10:g.3593090C>A, NC_000019.9:g.3593088C>A, NG_013363.1:g.18744G>T, NG_031943.1:g.12520C>A, NM_133261.3:c.*2900C>A, NM_133261.2:c.*2900C>A, NM_001411144.1:c.3852C>A, XM_005259492.4:c.3852C>A

Select item 14906778104.

rs1490677810 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:3586560 (GRCh38)
19:3586558 (GRCh37)
Canonical SPDI:: NC_000019.10:3586559:C:T
Gene:: GIPC3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.3586560C>T, NC_000019.9:g.3586558C>T, NG_031943.1:g.5990C>T, NM_133261.3:c.291C>T, NM_133261.2:c.291C>T, NM_001411144.1:c.291C>T, XM_005259492.4:c.291C>T

Select item 14905089415.

rs1490508941 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:3587469 (GRCh38)
19:3587467 (GRCh37)
Canonical SPDI:: NC_000019.10:3587468:A:G
Gene:: GIPC3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.3587469A>G, NC_000019.9:g.3587467A>G, NG_031943.1:g.6899A>G

Select item 14904830046.

rs1490483004 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:3586565 (GRCh38)
19:3586563 (GRCh37)
Canonical SPDI:: NC_000019.10:3586564:A:G
Gene:: GIPC3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.3586565A>G, NC_000019.9:g.3586563A>G, NG_031943.1:g.5995A>G, NM_133261.3:c.296A>G, NM_133261.2:c.296A>G, NM_001411144.1:c.296A>G, XM_005259492.4:c.296A>G, NP_573568.1:p.Glu99Gly, XP_005259549.1:p.Glu99Gly

Select item 14901846877.

rs1490184687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:3587978 (GRCh38)
19:3587976 (GRCh37)
Canonical SPDI:: NC_000019.10:3587977:C:T
Gene:: GIPC3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.3587978C>T, NC_000019.9:g.3587976C>T, NG_031943.1:g.7408C>T

Select item 14901536578.

rs1490153657 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:3588474 (GRCh38)
19:3588472 (GRCh37)
Canonical SPDI:: NC_000019.10:3588473:G:A
Gene:: GIPC3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000108/2 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
A=0.000446/2 (Estonian)
HGVS:: NC_000019.10:g.3588474G>A, NC_000019.9:g.3588472G>A, NG_031943.1:g.7904G>A

Select item 14901074249.

rs1490107424 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:3588774 (GRCh38)
19:3588772 (GRCh37)
Canonical SPDI:: NC_000019.10:3588773:C:A
Gene:: GIPC3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.3588774C>A, NC_000019.9:g.3588772C>A, NG_031943.1:g.8204C>A

Select item 148870224210.

rs1488702242 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:3583962 (GRCh38)
19:3583960 (GRCh37)
Canonical SPDI:: NC_000019.10:3583961:G:T
Gene:: GIPC3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.3583962G>T, NC_000019.9:g.3583960G>T, NG_031943.1:g.3392G>T

Select item 148869537011.

rs1488695370 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:3592122 (GRCh38)
19:3592120 (GRCh37)
Canonical SPDI:: NC_000019.10:3592121:A:G
Gene:: GIPC3 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.00007/1 (ALFA)
HGVS:: NC_000019.10:g.3592122A>G, NC_000019.9:g.3592120A>G, NG_031943.1:g.11552A>G, NM_133261.3:c.*1932A>G, NM_133261.2:c.*1932A>G, NM_001411144.1:c.2884A>G, XM_005259492.4:c.2884A>G, XP_005259549.1:p.Ile962Val

Select item 148840797512.

rs1488407975 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:3584498 (GRCh38)
19:3584496 (GRCh37)
Canonical SPDI:: NC_000019.10:3584497:G:A
Gene:: GIPC3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.3584498G>A, NC_000019.9:g.3584496G>A, NG_031943.1:g.3928G>A

Select item 148804514613.

rs1488045146 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:3584284 (GRCh38)
19:3584282 (GRCh37)
Canonical SPDI:: NC_000019.10:3584283:A:G,NC_000019.10:3584283:A:T
Gene:: GIPC3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00003/8 (TOPMED)
T=0.000057/8 (GnomAD)
HGVS:: NC_000019.10:g.3584284A>G, NC_000019.10:g.3584284A>T, NC_000019.9:g.3584282A>G, NC_000019.9:g.3584282A>T, NG_031943.1:g.3714A>G, NG_031943.1:g.3714A>T

Select item 148796063414.

rs1487960634 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:3586554 (GRCh38)
19:3586552 (GRCh37)
Canonical SPDI:: NC_000019.10:3586553:G:C
Gene:: GIPC3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.3586554G>C, NC_000019.9:g.3586552G>C, NG_031943.1:g.5984G>C, NM_133261.3:c.285G>C, NM_133261.2:c.285G>C, NM_001411144.1:c.285G>C, XM_005259492.4:c.285G>C, NP_573568.1:p.Gln95His, XP_005259549.1:p.Gln95His

Select item 148791879715.

rs1487918797 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:3584865 (GRCh38)
19:3584863 (GRCh37)
Canonical SPDI:: NC_000019.10:3584864:C:G
Gene:: GIPC3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.3584865C>G, NC_000019.9:g.3584863C>G, NG_031943.1:g.4295C>G

Select item 148777569016.

rs1487775690 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:3586995 (GRCh38)
19:3586993 (GRCh37)
Canonical SPDI:: NC_000019.10:3586994:G:C
Gene:: GIPC3 (Varview)
Functional Consequence:: splice_donor_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_000019.10:g.3586995G>C, NC_000019.9:g.3586993G>C, NG_031943.1:g.6425G>C

Select item 148777184817.

rs1487771848 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:3583961 (GRCh38)
19:3583959 (GRCh37)
Canonical SPDI:: NC_000019.10:3583960:T:C
Gene:: GIPC3 (Varview)
Functional Consequence:: 2KB_upstream_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)
C=0.000468/3 (1000Genomes)
HGVS:: NC_000019.10:g.3583961T>C, NC_000019.9:g.3583959T>C, NG_031943.1:g.3391T>C

Select item 148773842118.

rs1487738421 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:3590127 (GRCh38)
19:3590125 (GRCh37)
Canonical SPDI:: NC_000019.10:3590126:C:T
Gene:: GIPC3 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.3590127C>T, NC_000019.9:g.3590125C>T, NG_031943.1:g.9557C>T, NM_133261.3:c.876C>T, NM_133261.2:c.876C>T, NM_001411144.1:c.889C>T, XM_005259492.4:c.889C>T, XP_005259549.1:p.Pro297Ser

Select item 148740871619.

rs1487408716 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:3592505 (GRCh38)
19:3592503 (GRCh37)
Canonical SPDI:: NC_000019.10:3592504:A:C
Gene:: GIPC3 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000342/1 (KOREAN)
C=0.000495/8 (TOMMO)
HGVS:: NC_000019.10:g.3592505A>C, NC_000019.9:g.3592503A>C, NG_031943.1:g.11935A>C, NM_133261.3:c.*2315A>C, NM_133261.2:c.*2315A>C, NM_001411144.1:c.3267A>C, XM_005259492.4:c.3267A>C

Select item 148734185720.

rs1487341857 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:3586510 (GRCh38)
19:3586508 (GRCh37)
Canonical SPDI:: NC_000019.10:3586509:C:T
Gene:: GIPC3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.3586510C>T, NC_000019.9:g.3586508C>T, NG_031943.1:g.5940C>T, NM_133261.3:c.241C>T, NM_133261.2:c.241C>T, NM_001411144.1:c.241C>T, XM_005259492.4:c.241C>T, NP_573568.1:p.Leu81Phe, XP_005259549.1:p.Leu81Phe

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