SNP Links for Gene (Select 401152) - SNP

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Select item 14913844131.

rs1491384413 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:119301241 (GRCh38)
4:120222396 (GRCh37)
Canonical SPDI:: NC_000004.12:119301240:TA:
Gene:: C4orf3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00194/23 (ALFA)
-=0.00024/10 (GnomAD)
HGVS:: NC_000004.12:g.119301241_119301242del, NC_000004.11:g.120222396_120222397del

Select item 14911610632.

rs1491161063 has merged into rs146764198 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAA>-,AAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:119301247 (GRCh38)
4:120222402 (GRCh37)
Canonical SPDI:: NC_000004.12:119301241:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAA,NC_000004.12:119301241:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:119301241:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:119301241:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:119301241:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:119301241:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:119301241:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:119301241:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:119301241:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:119301241:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:119301241:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:119301241:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:119301241:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:119301241:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:119301241:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:119301241:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: C4orf3 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAAAAAAA=0./0 (GENOME_DK)
HGVS:: NC_000004.12:g.119301247_119301266del, NC_000004.12:g.119301254_119301266del, NC_000004.12:g.119301257_119301266del, NC_000004.12:g.119301258_119301266del, NC_000004.12:g.119301259_119301266del, NC_000004.12:g.119301260_119301266del, NC_000004.12:g.119301261_119301266del, NC_000004.12:g.119301262_119301266del, NC_000004.12:g.119301263_119301266del, NC_000004.12:g.119301264_119301266del, NC_000004.12:g.119301265_119301266del, NC_000004.12:g.119301266del, NC_000004.12:g.119301266dup, NC_000004.12:g.119301265_119301266dup, NC_000004.12:g.119301264_119301266dup, NC_000004.12:g.119301261_119301266dup, NC_000004.11:g.120222402_120222421del, NC_000004.11:g.120222409_120222421del, NC_000004.11:g.120222412_120222421del, NC_000004.11:g.120222413_120222421del, NC_000004.11:g.120222414_120222421del, NC_000004.11:g.120222415_120222421del, NC_000004.11:g.120222416_120222421del, NC_000004.11:g.120222417_120222421del, NC_000004.11:g.120222418_120222421del, NC_000004.11:g.120222419_120222421del, NC_000004.11:g.120222420_120222421del, NC_000004.11:g.120222421del, NC_000004.11:g.120222421dup, NC_000004.11:g.120222420_120222421dup, NC_000004.11:g.120222419_120222421dup, NC_000004.11:g.120222416_120222421dup

Select item 14897817463.

rs1489781746 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:119301191 (GRCh38)
4:120222346 (GRCh37)
Canonical SPDI:: NC_000004.12:119301190:G:T
Gene:: C4orf3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000318/6 (ALFA)
T=0.000354/48 (GnomAD)
T=0.001339/6 (Estonian)
HGVS:: NC_000004.12:g.119301191G>T, NC_000004.11:g.120222346G>T

Select item 14897771094.

rs1489777109 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:119300507 (GRCh38)
4:120221662 (GRCh37)
Canonical SPDI:: NC_000004.12:119300506:C:T
Gene:: C4orf3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.119300507C>T, NC_000004.11:g.120221662C>T, NM_001001701.4:c.29G>A, NM_001001701.3:c.29G>A, NM_001170330.1:c.428G>A, NP_001001701.2:p.Gly10Asp, NP_001163801.1:p.Gly143Asp

Select item 14893482275.

rs1489348227 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:119305295 (GRCh38)
4:120226451 (GRCh37)
Canonical SPDI:: NC_000004.12:119305295:AA:AAA
Gene:: C4orf3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.119305297dup, NC_000004.11:g.120226452dup

Select item 14891446096.

rs1489144609 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:119301586 (GRCh38)
4:120222741 (GRCh37)
Canonical SPDI:: NC_000004.12:119301585:T:G
Gene:: C4orf3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.119301586T>G, NC_000004.11:g.120222741T>G

Select item 14891218817.

rs1489121881 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:119301135 (GRCh38)
4:120222290 (GRCh37)
Canonical SPDI:: NC_000004.12:119301134:C:T
Gene:: C4orf3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.119301135C>T, NC_000004.11:g.120222290C>T

Select item 14890205028.

rs1489020502 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:119304272 (GRCh38)
4:120225427 (GRCh37)
Canonical SPDI:: NC_000004.12:119304271:G:T
Gene:: C4orf3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.119304272G>T, NC_000004.11:g.120225427G>T, NM_001170330.1:c.174C>A, NP_001163801.1:p.Asp58Glu

Select item 14876802609.

rs1487680260 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 4:119302516 (GRCh38)
4:120223671 (GRCh37)
Canonical SPDI:: NC_000004.12:119302515:C:
Gene:: C4orf3 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.119302516del, NC_000004.11:g.120223671del

Select item 148761778510.

rs1487617785 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:119299065 (GRCh38)
4:120220220 (GRCh37)
Canonical SPDI:: NC_000004.12:119299064:C:T
Gene:: C4orf3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.119299065C>T, NC_000004.11:g.120220220C>T

Select item 148740867011.

rs1487408670 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:119301208 (GRCh38)
4:120222363 (GRCh37)
Canonical SPDI:: NC_000004.12:119301207:A:C
Gene:: C4orf3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.119301208A>C, NC_000004.11:g.120222363A>C

Select item 148738131012.

rs1487381310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:119300630 (GRCh38)
4:120221785 (GRCh37)
Canonical SPDI:: NC_000004.12:119300629:G:A,NC_000004.12:119300629:G:C
Gene:: C4orf3 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000005/1 (GnomAD_exomes)
C=0.001946/55 (TOMMO)
HGVS:: NC_000004.12:g.119300630G>A, NC_000004.12:g.119300630G>C, NC_000004.11:g.120221785G>A, NC_000004.11:g.120221785G>C, NM_001001701.4:c.-95C>T, NM_001001701.4:c.-95C>G, NM_001001701.3:c.-95C>T, NM_001001701.3:c.-95C>G, NM_001170330.1:c.305C>T, NM_001170330.1:c.305C>G, NP_001163801.1:p.Ala102Val, NP_001163801.1:p.Ala102Gly

Select item 148731550413.

rs1487315504 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:119298275 (GRCh38)
4:120219430 (GRCh37)
Canonical SPDI:: NC_000004.12:119298274:T:G
Gene:: C4orf3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.119298275T>G, NC_000004.11:g.120219430T>G, NM_001001701.4:c.*504A>C, NM_001001701.3:c.*504A>C, NM_001170330.1:c.*504A>C

Select item 148610936614.

rs1486109366 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATT>-,TATTTATT [Show Flanks]
Chromosome:: 4:119303199 (GRCh38)
4:120224354 (GRCh37)
Canonical SPDI:: NC_000004.12:119303192:TTTATTTATT:TTTATT,NC_000004.12:119303192:TTTATTTATT:TTTATTTATTTATT
Gene:: C4orf3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTATTTATTTATT=0./0 (ALFA)
HGVS:: NC_000004.12:g.119303195TATT[1], NC_000004.12:g.119303195TATT[3], NC_000004.11:g.120224350TATT[1], NC_000004.11:g.120224350TATT[3]

Select item 148603351115.

rs1486033511 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:119299555 (GRCh38)
4:120220710 (GRCh37)
Canonical SPDI:: NC_000004.12:119299554:G:T
Gene:: C4orf3 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000004.12:g.119299555G>T, NC_000004.11:g.120220710G>T

Select item 148598454916.

rs1485984549 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:119301450 (GRCh38)
4:120222605 (GRCh37)
Canonical SPDI:: NC_000004.12:119301449:T:C
Gene:: C4orf3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.119301450T>C, NC_000004.11:g.120222605T>C

Select item 148587102917.

rs1485871029 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:119302743 (GRCh38)
4:120223898 (GRCh37)
Canonical SPDI:: NC_000004.12:119302742:C:T
Gene:: C4orf3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.119302743C>T, NC_000004.11:g.120223898C>T

Select item 148578287518.

rs1485782875 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTT [Show Flanks]
Chromosome:: 4:119304292 (GRCh38)
4:120225448 (GRCh37)
Canonical SPDI:: NC_000004.12:119304292:TTTT:TTTTTTTT
Gene:: C4orf3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
TTTT=0.000004/1 (TOPMED)
TTTT=0.000021/3 (GnomAD_exomes)
HGVS:: NC_000004.12:g.119304293_119304296dup, NC_000004.11:g.120225448_120225451dup, NM_001170330.1:c.150_153dup, NP_001163801.1:p.His52fs

Select item 148567073719.

rs1485670737 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 4:119296321 (GRCh38)
4:120217476 (GRCh37)
Canonical SPDI:: NC_000004.12:119296320:G:C,NC_000004.12:119296320:G:T
Gene:: C4orf3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.119296321G>C, NC_000004.12:g.119296321G>T, NC_000004.11:g.120217476G>C, NC_000004.11:g.120217476G>T

Select item 148527450920.

rs1485274509 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:119305168 (GRCh38)
4:120226323 (GRCh37)
Canonical SPDI:: NC_000004.12:119305167:G:A
Gene:: C4orf3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.119305168G>A, NC_000004.11:g.120226323G>A

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