SNP Links for Gene (Select 574538) - SNP

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Select item 14910344381.

rs1491034438 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGAAGA [Show Flanks]
Chromosome:: 12:137646 (GRCh38)
12:246813 (GRCh37)
Canonical SPDI:: NC_000012.12:137646:A:AAGAAGA
Gene:: IQSEC3 (Varview), LOC574538 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAAGA=0./0 (ALFA)
AAGAAG=0.000082/11 (GnomAD)
HGVS:: NC_000012.12:g.137647_137648insAGAAGA, NC_000012.11:g.246813_246814insAGAAGA, NW_003571049.1:g.131662_131663insAGAAGA, NW_003571048.1:g.127647_127648insAGAAGA

Select item 14909972972.

rs1490997297 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 12:150294 (GRCh38)
12:259461 (GRCh37)
Canonical SPDI:: NC_000012.12:150294:TTT:TTTT
Gene:: IQSEC3 (Varview), LOC574538 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
T=0.000159/42 (TOPMED)
T=0.000207/29 (GnomAD)
HGVS:: NC_000012.12:g.150297dup, NC_000012.11:g.259463dup, NW_003571049.1:g.144312dup, NW_003571048.1:g.140297dup

Select item 14905776133.

rs1490577613 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:143272 (GRCh38)
12:252438 (GRCh37)
Canonical SPDI:: NC_000012.12:143271:G:C
Gene:: IQSEC3 (Varview), LOC574538 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.143272G>C, NC_000012.11:g.252438G>C, NW_003571049.1:g.137287G>C, NW_003571048.1:g.133272G>C, NR_033859.2:n.490C>G, NR_033859.1:n.490C>G

Select item 14905044704.

rs1490504470 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:150809 (GRCh38)
12:259975 (GRCh37)
Canonical SPDI:: NC_000012.12:150808:G:A,NC_000012.12:150808:G:C
Gene:: IQSEC3 (Varview), LOC574538 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
C=0.001027/3 (KOREAN)
HGVS:: NC_000012.12:g.150809G>A, NC_000012.12:g.150809G>C, NC_000012.11:g.259975G>A, NC_000012.11:g.259975G>C, NW_003571049.1:g.144824G>A, NW_003571049.1:g.144824G>C, NW_003571048.1:g.140809G>A, NW_003571048.1:g.140809G>C

Select item 14901170325.

rs1490117032 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:148837 (GRCh38)
12:258003 (GRCh37)
Canonical SPDI:: NC_000012.12:148836:C:A
Gene:: IQSEC3 (Varview), LOC574538 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000012.12:g.148837C>A, NC_000012.11:g.258003C>A, NW_003571049.1:g.142852C>A, NW_003571048.1:g.138837C>A

Select item 14897132996.

rs1489713299 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:142800 (GRCh38)
12:251966 (GRCh37)
Canonical SPDI:: NC_000012.12:142799:T:C
Gene:: IQSEC3 (Varview), LOC574538 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.142800T>C, NC_000012.11:g.251966T>C, NW_003571049.1:g.136815T>C, NW_003571048.1:g.132800T>C

Select item 14896970317.

rs1489697031 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 12:143736 (GRCh38)
12:252902 (GRCh37)
Canonical SPDI:: NC_000012.12:143735:A:G,NC_000012.12:143735:A:T
Gene:: IQSEC3 (Varview), LOC574538 (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)
G=0.000106/2 (TOMMO)
HGVS:: NC_000012.12:g.143736A>G, NC_000012.12:g.143736A>T, NC_000012.11:g.252902A>G, NC_000012.11:g.252902A>T, NW_003571049.1:g.137751A>G, NW_003571049.1:g.137751A>T, NW_003571048.1:g.133736A>G, NW_003571048.1:g.133736A>T

Select item 14896483078.

rs1489648307 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:149340 (GRCh38)
12:258506 (GRCh37)
Canonical SPDI:: NC_000012.12:149339:C:T
Gene:: IQSEC3 (Varview), LOC574538 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.149340C>T, NC_000012.11:g.258506C>T, NW_003571049.1:g.143355C>T, NW_003571048.1:g.139340C>T

Select item 14895685179.

rs1489568517 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:141059 (GRCh38)
12:250225 (GRCh37)
Canonical SPDI:: NC_000012.12:141058:G:C
Gene:: IQSEC3 (Varview), LOC574538 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000342/1 (KOREAN)
HGVS:: NC_000012.12:g.141059G>C, NC_000012.11:g.250225G>C, NW_003571049.1:g.135074G>C, NW_003571048.1:g.131059G>C, NR_033859.2:n.2009C>G, NR_033859.1:n.2009C>G

Select item 148943898510.

rs1489438985 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:142236 (GRCh38)
12:251402 (GRCh37)
Canonical SPDI:: NC_000012.12:142235:G:A,NC_000012.12:142235:G:C
Gene:: IQSEC3 (Varview), LOC574538 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000029/4 (GnomAD)
A=0.000035/1 (TOMMO)
C=0.000156/1 (1000Genomes)
C=0.000223/1 (Estonian)
G=0.5/1 (Siberian)
HGVS:: NC_000012.12:g.142236G>A, NC_000012.12:g.142236G>C, NC_000012.11:g.251402G>A, NC_000012.11:g.251402G>C, NW_003571049.1:g.136251G>A, NW_003571049.1:g.136251G>C, NW_003571048.1:g.132236G>A, NW_003571048.1:g.132236G>C, NR_033859.2:n.921C>T, NR_033859.2:n.921C>G, NR_033859.1:n.921C>T, NR_033859.1:n.921C>G

Select item 148940859011.

rs1489408590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:141370 (GRCh38)
12:250536 (GRCh37)
Canonical SPDI:: NC_000012.12:141369:C:A,NC_000012.12:141369:C:T
Gene:: IQSEC3 (Varview), LOC574538 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.141370C>A, NC_000012.12:g.141370C>T, NC_000012.11:g.250536C>A, NC_000012.11:g.250536C>T, NW_003571049.1:g.135385C>A, NW_003571049.1:g.135385C>T, NW_003571048.1:g.131370C>A, NW_003571048.1:g.131370C>T, NR_033859.2:n.1787G>T, NR_033859.2:n.1787G>A, NR_033859.1:n.1787G>T, NR_033859.1:n.1787G>A

Select item 148920489312.

rs1489204893 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:138688 (GRCh38)
12:247854 (GRCh37)
Canonical SPDI:: NC_000012.12:138687:C:G,NC_000012.12:138687:C:T
Gene:: IQSEC3 (Varview), LOC574538 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.138688C>G, NC_000012.12:g.138688C>T, NC_000012.11:g.247854C>G, NC_000012.11:g.247854C>T, NW_003571049.1:g.132703C>G, NW_003571049.1:g.132703C>T, NW_003571048.1:g.128688C>G, NW_003571048.1:g.128688C>T, XM_011520958.3:c.1325C>G, XM_011520958.3:c.1325C>T, XM_011520958.2:c.1325C>G, XM_011520958.2:c.1325C>T, XM_011520958.1:c.1325C>G, XM_011520958.1:c.1325C>T, NM_001170738.2:c.1325C>G, NM_001170738.2:c.1325C>T, NM_001170738.1:c.1325C>G, NM_001170738.1:c.1325C>T, XM_011520961.2:c.416C>G, XM_011520961.2:c.416C>T, XM_011520961.1:c.416C>G, XM_011520961.1:c.416C>T, XM_011520960.2:c.1325C>G, XM_011520960.2:c.1325C>T, XM_011520960.1:c.1325C>G, XM_011520960.1:c.1325C>T, XM_017019311.2:c.1325C>G, XM_017019311.2:c.1325C>T, XM_017019311.1:c.1325C>G, XM_017019311.1:c.1325C>T, NM_015232.2:c.416C>G, NM_015232.2:c.416C>T, NM_015232.1:c.416C>G, NM_015232.1:c.416C>T, XM_047428865.1:c.1325C>G, XM_047428865.1:c.1325C>T, XP_011519260.1:p.Ala442Gly, XP_011519260.1:p.Ala442Val, NP_001164209.1:p.Ala442Gly, NP_001164209.1:p.Ala442Val, XP_011519263.1:p.Ala139Gly, XP_011519263.1:p.Ala139Val, XP_011519262.1:p.Ala442Gly, XP_011519262.1:p.Ala442Val, XP_016874800.1:p.Ala442Gly, XP_016874800.1:p.Ala442Val, NP_056047.1:p.Ala139Gly, NP_056047.1:p.Ala139Val, XP_047284821.1:p.Ala442Gly, XP_047284821.1:p.Ala442Val

Select item 148917315313.

rs1489173153 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:137749 (GRCh38)
12:246915 (GRCh37)
Canonical SPDI:: NC_000012.12:137748:G:A
Gene:: IQSEC3 (Varview), LOC574538 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.137749G>A, NC_000012.11:g.246915G>A, NW_003571049.1:g.131764G>A, NW_003571048.1:g.127749G>A

Select item 148903821114.

rs1489038211 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:144974 (GRCh38)
12:254140 (GRCh37)
Canonical SPDI:: NC_000012.12:144973:G:A
Gene:: IQSEC3 (Varview), LOC574538 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.00006/1 (TOMMO)
HGVS:: NC_000012.12:g.144974G>A, NC_000012.11:g.254140G>A, NW_003571049.1:g.138989G>A, NW_003571048.1:g.134974G>A

Select item 148858869515.

rs1488588695 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:141463 (GRCh38)
12:250629 (GRCh37)
Canonical SPDI:: NC_000012.12:141462:G:T
Gene:: IQSEC3 (Varview), LOC574538 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.141463G>T, NC_000012.11:g.250629G>T, NW_003571049.1:g.135478G>T, NW_003571048.1:g.131463G>T, NR_033859.2:n.1694C>A, NR_033859.1:n.1694C>A

Select item 148838928216.

rs1488389282 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 12:144126 (GRCh38)
12:253292 (GRCh37)
Canonical SPDI:: NC_000012.12:144125:G:C,NC_000012.12:144125:G:T
Gene:: IQSEC3 (Varview), LOC574538 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.144126G>C, NC_000012.12:g.144126G>T, NC_000012.11:g.253292G>C, NC_000012.11:g.253292G>T, NW_003571049.1:g.138141G>C, NW_003571049.1:g.138141G>T, NW_003571048.1:g.134126G>C, NW_003571048.1:g.134126G>T

Select item 148825730017.

rs1488257300 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:143381 (GRCh38)
12:252547 (GRCh37)
Canonical SPDI:: NC_000012.12:143380:G:A
Gene:: IQSEC3 (Varview), LOC574538 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.143381G>A, NC_000012.11:g.252547G>A, NW_003571049.1:g.137396G>A, NW_003571048.1:g.133381G>A, NR_033859.2:n.381C>T, NR_033859.1:n.381C>T

Select item 148804762418.

rs1488047624 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:146579 (GRCh38)
12:255745 (GRCh37)
Canonical SPDI:: NC_000012.12:146578:G:A
Gene:: IQSEC3 (Varview), LOC574538 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000012.12:g.146579G>A, NC_000012.11:g.255745G>A, NW_003571049.1:g.140594G>A, NW_003571048.1:g.136579G>A

Select item 148793154319.

rs1487931543 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:140662 (GRCh38)
12:249828 (GRCh37)
Canonical SPDI:: NC_000012.12:140661:C:T
Gene:: IQSEC3 (Varview), LOC574538 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.140662C>T, NC_000012.11:g.249828C>T, NW_003571049.1:g.134677C>T, NW_003571048.1:g.130662C>T, NR_033859.2:n.2298G>A, NR_033859.1:n.2298G>A

Select item 148786007520.

rs1487860075 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:146876 (GRCh38)
12:256042 (GRCh37)
Canonical SPDI:: NC_000012.12:146875:G:A
Gene:: IQSEC3 (Varview), LOC574538 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.146876G>A, NC_000012.11:g.256042G>A, NW_003571049.1:g.140891G>A, NW_003571048.1:g.136876G>A

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