SNP Links for Gene (Select 414189) - SNP

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Select item 14914305661.

rs1491430566 has merged into rs782287928 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACACA [Show Flanks]
Chromosome:: 10:49984589 (GRCh38)
10:51744349 (GRCh37)
Canonical SPDI:: NC_000010.11:49984576:CACACACACACACACA:CACACACACACA,NC_000010.11:49984576:CACACACACACACACA:CACACACACACACA,NC_000010.11:49984576:CACACACACACACACA:CACACACACACACACACA,NC_000010.11:49984576:CACACACACACACACA:CACACACACACACACACACA
Gene:: TIMM23B-AGAP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACA=0./0 (ALFA)
CA=0.00052/2 (ALSPAC)
CA=0.00081/3 (TWINSUK)
HGVS:: NC_000010.11:g.49984577CA[6], NC_000010.11:g.49984577CA[7], NC_000010.11:g.49984577CA[9], NC_000010.11:g.49984577CA[10], NC_000010.10:g.51744337CA[6], NC_000010.10:g.51744337CA[7], NC_000010.10:g.51744337CA[9], NC_000010.10:g.51744337CA[10], NW_004504302.1:g.163752CA[6], NW_004504302.1:g.163752CA[7], NW_004504302.1:g.163752CA[9], NW_004504302.1:g.163752CA[10]

Select item 14914207112.

rs1491420711 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:50007392 (GRCh38)
10:51767152 (GRCh37)
Canonical SPDI:: NC_000010.11:50007391:CA:
Gene:: AGAP6 (Varview), TIMM23B-AGAP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00084/10 (ALFA)
HGVS:: NC_000010.11:g.50007392_50007393del, NC_000010.10:g.51767152_51767153del, NW_004504302.1:g.186567_186568del

Select item 14914014523.

rs1491401452 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 10:49979587 (GRCh38)
10:51739347 (GRCh37)
Canonical SPDI:: NC_000010.11:49979586:AT:
Gene:: TIMM23B-AGAP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
-=0.00039/6 (TOMMO)
HGVS:: NC_000010.11:g.49979587_49979588del, NC_000010.10:g.51739347_51739348del, NG_045731.1:g.293_294del, NW_004504302.1:g.158762_158763del

Select item 14913969424.

rs1491396942 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:49996756 (GRCh38)
10:51756517 (GRCh37)
Canonical SPDI:: NC_000010.11:49996756:C:CC
Gene:: AGAP6 (Varview), TIMM23B-AGAP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.49996757dup, NC_000010.10:g.51756517dup, NW_004504302.1:g.175932dup

Select item 14913821875.

rs1491382187 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AATATATATATA [Show Flanks]
Chromosome:: 10:49997991 (GRCh38)
10:51757752 (GRCh37)
Canonical SPDI:: NC_000010.11:49997991:ATA:ATAAATATATATATA
Gene:: AGAP6 (Varview), TIMM23B-AGAP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATAAATATATATATA=0./0 (ALFA)
ATAAATATATAT=0.000035/4 (GnomAD)
HGVS:: NC_000010.11:g.49997994_49997995insAATATATATATA, NC_000010.10:g.51757754_51757755insAATATATATATA, NW_004504302.1:g.177169_177170insAATATATATATA

Select item 14912382426.

rs1491238242 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 10:49996756 (GRCh38)
10:51756516 (GRCh37)
Canonical SPDI:: NC_000010.11:49996755:TC:
Gene:: AGAP6 (Varview), TIMM23B-AGAP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.49996756_49996757del, NC_000010.10:g.51756516_51756517del, NW_004504302.1:g.175931_175932del

Select item 14911838427.

rs1491183842 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:49997991 (GRCh38)
10:51757751 (GRCh37)
Canonical SPDI:: NC_000010.11:49997990:CA:
Gene:: AGAP6 (Varview), TIMM23B-AGAP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00005/2 (GnomAD)
HGVS:: NC_000010.11:g.49997991_49997992del, NC_000010.10:g.51757751_51757752del, NW_004504302.1:g.177166_177167del

Select item 14911760048.

rs1491176004 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATGTGT,ATGTGTGT [Show Flanks]
Chromosome:: 10:49979587 (GRCh38)
10:51739348 (GRCh37)
Canonical SPDI:: NC_000010.11:49979587:T:TATGTGT,NC_000010.11:49979587:T:TATGTGTGT
Gene:: TIMM23B-AGAP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATGTGTGT=0./0 (ALFA)
HGVS:: NC_000010.11:g.49979588_49979589insATGTGT, NC_000010.11:g.49979588_49979589insATGTGTGT, NC_000010.10:g.51739348_51739349insATGTGT, NC_000010.10:g.51739348_51739349insATGTGTGT, NG_045731.1:g.293AC[2]ATA[1], NG_045731.1:g.293AC[3]ATA[1], NW_004504302.1:g.158763_158764insATGTGT, NW_004504302.1:g.158763_158764insATGTGTGT

Select item 14911383449.

rs1491138344 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: 10:49984577 (GRCh38)
10:51744338 (GRCh37)
Canonical SPDI:: NC_000010.11:49984577:A:AAA
Gene:: TIMM23B-AGAP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
AA=0.000007/1 (GnomAD)
AA=0.000023/6 (TOPMED)
HGVS:: NC_000010.11:g.49984578_49984579insAA, NC_000010.10:g.51744338_51744339insAA, NW_004504302.1:g.163753_163754insAA

Select item 149100431710.

rs1491004317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:50004071 (GRCh38)
10:51763831 (GRCh37)
Canonical SPDI:: NC_000010.11:50004070:G:A
Gene:: AGAP6 (Varview), TIMM23B-AGAP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.50004071G>A, NC_000010.10:g.51763831G>A, NW_004504302.1:g.183246G>A

Select item 149091483311.

rs1490914833 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:49989968 (GRCh38)
10:51749728 (GRCh37)
Canonical SPDI:: NC_000010.11:49989967:G:A
Gene:: AGAP6 (Varview), TIMM23B-AGAP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000389/7 (TOMMO)
HGVS:: NC_000010.11:g.49989968G>A, NC_000010.10:g.51749728G>A, NW_004504302.1:g.169143G>A

Select item 149089913512.

rs1490899135 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 10:49989041 (GRCh38)
10:51748801 (GRCh37)
Canonical SPDI:: NC_000010.11:49989040:G:
Gene:: AGAP6 (Varview), TIMM23B-AGAP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.49989041del, NC_000010.10:g.51748801del, NW_004504302.1:g.168216del

Select item 149085028713.

rs1490850287 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:50003247 (GRCh38)
10:51763007 (GRCh37)
Canonical SPDI:: NC_000010.11:50003246:G:C
Gene:: AGAP6 (Varview), TIMM23B-AGAP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.50003247G>C, NC_000010.10:g.51763007G>C, NW_004504302.1:g.182422G>C

Select item 149072655614.

rs1490726556 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 10:50009502 (GRCh38)
10:51769262 (GRCh37)
Canonical SPDI:: NC_000010.11:50009501:C:A,NC_000010.11:50009501:C:G
Gene:: AGAP6 (Varview), TIMM23B-AGAP6 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.50009502C>A, NC_000010.11:g.50009502C>G, NC_000010.10:g.51769262C>A, NC_000010.10:g.51769262C>G, NW_004504302.1:g.188677C>A, NW_004504302.1:g.188677C>G, NM_001077665.3:c.1377C>A, NM_001077665.3:c.1377C>G, NM_001077665.2:c.1377C>A, NM_001077665.2:c.1377C>G, NM_001365867.2:c.774C>A, NM_001365867.2:c.774C>G, NR_158661.1:n.2603C>A, NR_158661.1:n.2603C>G, NR_158660.1:n.2323C>A, NR_158660.1:n.2323C>G, NR_158659.1:n.2291C>A, NR_158659.1:n.2291C>G, NR_158658.1:n.2140C>A, NR_158658.1:n.2140C>G, NM_001365867.1:c.774C>A, NM_001365867.1:c.774C>G, NR_158657.1:n.2065C>A, NR_158657.1:n.2065C>G, NR_171667.1:n.2059C>A, NR_171667.1:n.2059C>G, NR_158656.1:n.1941C>A, NR_158656.1:n.1941C>G, NR_158654.1:n.1882C>A, NR_158654.1:n.1882C>G

Select item 149066590815.

rs1490665908 has merged into rs1289538052 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTTTTTTTGTTTT>-,GTTTTTTTGTTTTGTTTTTTTGTTTT [Show Flanks]
Chromosome:: 10:49983841 (GRCh38)
10:51743601 (GRCh37)
Canonical SPDI:: NC_000010.11:49983822:GTTTTGTTTTTTTGTTTTGTTTTTTTGTTTT:GTTTTGTTTTTTTGTTTT,NC_000010.11:49983822:GTTTTGTTTTTTTGTTTTGTTTTTTTGTTTT:GTTTTGTTTTTTTGTTTTGTTTTTTTGTTTTGTTTTTTTGTTTT
Gene:: TIMM23B-AGAP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTTTTGTTTTTTTGTTTT=0.00247/40 (ALFA)
-=0.00234/15 (1000Genomes)
HGVS:: NC_000010.11:g.49983828GTTTTTTTGTTTT[1], NC_000010.11:g.49983828GTTTTTTTGTTTT[3], NC_000010.10:g.51743588GTTTTTTTGTTTT[1], NC_000010.10:g.51743588GTTTTTTTGTTTT[3], NW_004504302.1:g.163003GTTTTTTTGTTTT[1], NW_004504302.1:g.163003GTTTTTTTGTTTT[3]

Select item 149059660716.

rs1490596607 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:49995593 (GRCh38)
10:51755353 (GRCh37)
Canonical SPDI:: NC_000010.11:49995592:G:A,NC_000010.11:49995592:G:T
Gene:: AGAP6 (Varview), TIMM23B-AGAP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000026/7 (TOPMED)
A=0.000071/1 (TOMMO)
HGVS:: NC_000010.11:g.49995593G>A, NC_000010.11:g.49995593G>T, NC_000010.10:g.51755353G>A, NC_000010.10:g.51755353G>T, NW_004504302.1:g.174768G>A, NW_004504302.1:g.174768G>T

Select item 149052529917.

rs1490525299 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:49982929 (GRCh38)
10:51742689 (GRCh37)
Canonical SPDI:: NC_000010.11:49982928:T:C
Gene:: TIMM23B-AGAP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.49982929T>C, NC_000010.10:g.51742689T>C, NW_004504302.1:g.162104T>C

Select item 149051212218.

rs1490512122 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:50003722 (GRCh38)
10:51763482 (GRCh37)
Canonical SPDI:: NC_000010.11:50003721:T:C
Gene:: AGAP6 (Varview), TIMM23B-AGAP6 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.50003722T>C, NC_000010.10:g.51763482T>C, NW_004504302.1:g.182897T>C, NM_001365867.2:c.-167T>C, NM_001365867.1:c.-167T>C, NR_171667.1:n.1119T>C

Select item 149042193219.

rs1490421932 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:49989493 (GRCh38)
10:51749253 (GRCh37)
Canonical SPDI:: NC_000010.11:49989492:C:T
Gene:: AGAP6 (Varview), TIMM23B-AGAP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.49989493C>T, NC_000010.10:g.51749253C>T, NW_004504302.1:g.168668C>T

Select item 149035993420.

rs1490359934 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:50002769 (GRCh38)
10:51762529 (GRCh37)
Canonical SPDI:: NC_000010.11:50002768:A:G
Gene:: AGAP6 (Varview), TIMM23B-AGAP6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00098/16 (ALFA)
G=0.00056/33 (GnomAD)
A=0.5/2 (SGDP_PRJ)
HGVS:: NC_000010.11:g.50002769A>G, NC_000010.10:g.51762529A>G, NW_004504302.1:g.181944A>G

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