SNP Links for Gene (Select 4695) - SNP

Links from Gene

Items: 1 to 20 of 1000

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Select item 14912876671.

rs1491287667 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 5:140646010 (GRCh38)
5:140025596 (GRCh37)
Canonical SPDI:: NC_000005.10:140646010::C
Gene:: IK (Varview), NDUFA2 (Varview), TMCO6 (Varview), MIR3655 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00005/2 (GnomAD)
HGVS:: NC_000005.10:g.140646010_140646011insC, NC_000005.9:g.140025595_140025596insC, NG_021417.1:g.6775_6776insG

Select item 14909938442.

rs1490993844 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:140648739 (GRCh38)
5:140028324 (GRCh37)
Canonical SPDI:: NC_000005.10:140648738:A:G
Gene:: IK (Varview), NDUFA2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/1 (GnomAD)
HGVS:: NC_000005.10:g.140648739A>G, NC_000005.9:g.140028324A>G, NG_021417.1:g.4047T>C

Select item 14905027733.

rs1490502773 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:140648252 (GRCh38)
5:140027837 (GRCh37)
Canonical SPDI:: NC_000005.10:140648251:T:G
Gene:: IK (Varview), NDUFA2 (Varview), MIR3655 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_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_000005.10:g.140648252T>G, NC_000005.9:g.140027837T>G, NG_021417.1:g.4534A>C

Select item 14904737224.

rs1490473722 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTTTC [Show Flanks]
Chromosome:: 5:140649184 (GRCh38)
5:140028770 (GRCh37)
Canonical SPDI:: NC_000005.10:140649184::CTTTC
Gene:: IK (Varview), NDUFA2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTTTC=0./0 (ALFA)
CTTTC=0.000004/1 (TOPMED)
CTTTC=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.140649184_140649185insCTTTC, NC_000005.9:g.140028769_140028770insCTTTC, NG_021417.1:g.3601_3602insGAAAG

Select item 14893828035.

rs1489382803 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:140645298 (GRCh38)
5:140024883 (GRCh37)
Canonical SPDI:: NC_000005.10:140645297:T:A
Gene:: NDUFA2 (Varview), TMCO6 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.140645298T>A, NC_000005.9:g.140024883T>A, NG_021417.1:g.7488A>T, NM_002488.5:c.*289A>T, NR_033697.2:n.756A>T, NM_018502.5:c.*200T>A, NM_018502.4:c.*200T>A, NM_018502.3:c.*200T>A, XM_011537665.3:c.*200T>A, XM_011537665.2:c.*200T>A, XM_011537665.1:c.*200T>A, XM_024446125.2:c.*200T>A, XM_024446125.1:c.*200T>A, NM_001300980.2:c.*200T>A, NM_001300980.1:c.*200T>A, XM_024446124.2:c.*200T>A, XM_024446124.1:c.*200T>A, XM_005268477.2:c.*200T>A, XM_005268477.1:c.*200T>A, XM_017009618.2:c.*200T>A, XM_017009618.1:c.*200T>A, NM_001300982.2:c.*200T>A, NM_001300982.1:c.*200T>A, XM_047417356.1:c.*200T>A, XM_047417355.1:c.*200T>A, XM_047417357.1:c.*200T>A, XM_047417358.1:c.*200T>A, XM_047417353.1:c.*200T>A

Select item 14887997006.

rs1488799700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:140647575 (GRCh38)
5:140027160 (GRCh37)
Canonical SPDI:: NC_000005.10:140647574:C:A,NC_000005.10:140647574:C:T
Gene:: IK (Varview), NDUFA2 (Varview), TMCO6 (Varview), MIR3655 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.140647575C>A, NC_000005.10:g.140647575C>T, NC_000005.9:g.140027160C>A, NC_000005.9:g.140027160C>T, NG_021417.1:g.5211G>T, NG_021417.1:g.5211G>A, NM_002488.5:c.9G>T, NM_002488.5:c.9G>A, NM_002488.4:c.9G>T, NM_002488.4:c.9G>A, NR_033697.2:n.56G>T, NR_033697.2:n.56G>A, NR_033697.1:n.211G>T, NR_033697.1:n.211G>A, NM_001185012.2:c.9G>T, NM_001185012.2:c.9G>A, NM_001185012.1:c.9G>T, NM_001185012.1:c.9G>A, XM_047417354.1:c.*758C>A, XM_047417354.1:c.*758C>T

Select item 14882114097.

rs1488211409 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:140646369 (GRCh38)
5:140025954 (GRCh37)
Canonical SPDI:: NC_000005.10:140646368:T:C
Gene:: IK (Varview), NDUFA2 (Varview), TMCO6 (Varview), MIR3655 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.140646369T>C, NC_000005.9:g.140025954T>C, NG_021417.1:g.6417A>G

Select item 14877670088.

rs1487767008 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:140645528 (GRCh38)
5:140025113 (GRCh37)
Canonical SPDI:: NC_000005.10:140645527:T:C
Gene:: NDUFA2 (Varview), TMCO6 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.140645528T>C, NC_000005.9:g.140025113T>C, NG_021417.1:g.7258A>G, NM_002488.5:c.*59A>G, NM_002488.4:c.*59A>G, NR_033697.2:n.526A>G, NR_033697.1:n.681A>G, NM_001185012.2:c.*175A>G, NM_001185012.1:c.*175A>G

Select item 14871736529.

rs1487173652 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:140644920 (GRCh38)
5:140024505 (GRCh37)
Canonical SPDI:: NC_000005.10:140644919:G:T
Gene:: NDUFA2 (Varview), TMCO6 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.140644920G>T, NC_000005.9:g.140024505G>T, NG_021417.1:g.7866C>A

Select item 148588923210.

rs1485889232 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:140648962 (GRCh38)
5:140028547 (GRCh37)
Canonical SPDI:: NC_000005.10:140648961:C:G,NC_000005.10:140648961:C:T
Gene:: IK (Varview), NDUFA2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.140648962C>G, NC_000005.10:g.140648962C>T, NC_000005.9:g.140028547C>G, NC_000005.9:g.140028547C>T, NG_021417.1:g.3824G>C, NG_021417.1:g.3824G>A

Select item 148556112211.

rs1485561122 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 5:140648120 (GRCh38)
5:140027705 (GRCh37)
Canonical SPDI:: NC_000005.10:140648119:CCCC:CCC
Gene:: IK (Varview), NDUFA2 (Varview), TMCO6 (Varview), MIR3655 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD_exomes)
-=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.140648123del, NC_000005.9:g.140027708del, NG_021417.1:g.4666del

Select item 148528172312.

rs1485281723 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:140649233 (GRCh38)
5:140028818 (GRCh37)
Canonical SPDI:: NC_000005.10:140649232:C:A,NC_000005.10:140649232:C:T
Gene:: IK (Varview), NDUFA2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000048/6 (GnomAD)
A=0.00054/15 (TOMMO)
HGVS:: NC_000005.10:g.140649233C>A, NC_000005.10:g.140649233C>T, NC_000005.9:g.140028818C>A, NC_000005.9:g.140028818C>T, NG_021417.1:g.3553G>T, NG_021417.1:g.3553G>A

Select item 148270440313.

rs1482704403 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 5:140649107 (GRCh38)
5:140028692 (GRCh37)
Canonical SPDI:: NC_000005.10:140649106:G:A,NC_000005.10:140649106:G:C,NC_000005.10:140649106:G:T
Gene:: IK (Varview), NDUFA2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.00039/11 (TOMMO)
HGVS:: NC_000005.10:g.140649107G>A, NC_000005.10:g.140649107G>C, NC_000005.10:g.140649107G>T, NC_000005.9:g.140028692G>A, NC_000005.9:g.140028692G>C, NC_000005.9:g.140028692G>T, NG_021417.1:g.3679C>T, NG_021417.1:g.3679C>G, NG_021417.1:g.3679C>A

Select item 148210727114.

rs1482107271 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:140645973 (GRCh38)
5:140025558 (GRCh37)
Canonical SPDI:: NC_000005.10:140645972:C:T
Gene:: IK (Varview), NDUFA2 (Varview), TMCO6 (Varview), MIR3655 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.140645973C>T, NC_000005.9:g.140025558C>T, NG_021417.1:g.6813G>A

Select item 148210241115.

rs1482102411 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:140647534 (GRCh38)
5:140027119 (GRCh37)
Canonical SPDI:: NC_000005.10:140647533:C:G,NC_000005.10:140647533:C:T
Gene:: IK (Varview), NDUFA2 (Varview), TMCO6 (Varview), MIR3655 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.140647534C>G, NC_000005.10:g.140647534C>T, NC_000005.9:g.140027119C>G, NC_000005.9:g.140027119C>T, NG_021417.1:g.5252G>C, NG_021417.1:g.5252G>A, NM_002488.5:c.50G>C, NM_002488.5:c.50G>A, NM_002488.4:c.50G>C, NM_002488.4:c.50G>A, NR_033697.2:n.97G>C, NR_033697.2:n.97G>A, NR_033697.1:n.252G>C, NR_033697.1:n.252G>A, NM_001185012.2:c.50G>C, NM_001185012.2:c.50G>A, NM_001185012.1:c.50G>C, NM_001185012.1:c.50G>A, XM_047417354.1:c.*717C>G, XM_047417354.1:c.*717C>T, NP_002479.1:p.Arg17Pro, NP_002479.1:p.Arg17His, NP_001171941.1:p.Arg17Pro, NP_001171941.1:p.Arg17His

Select item 148185769116.

rs1481857691 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:140646753 (GRCh38)
5:140026338 (GRCh37)
Canonical SPDI:: NC_000005.10:140646752:T:G
Gene:: IK (Varview), NDUFA2 (Varview), TMCO6 (Varview), MIR3655 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000035/1 (TOMMO)
G=0.000342/1 (KOREAN)
HGVS:: NC_000005.10:g.140646753T>G, NC_000005.9:g.140026338T>G, NG_021417.1:g.6033A>C

Select item 147832847517.

rs1478328475 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:140645445 (GRCh38)
5:140025030 (GRCh37)
Canonical SPDI:: NC_000005.10:140645444:T:C
Gene:: NDUFA2 (Varview), TMCO6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,non_coding_transcript_variant,downstream_transcript_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_000005.10:g.140645445T>C, NC_000005.9:g.140025030T>C, NG_021417.1:g.7341A>G, NM_002488.5:c.*142A>G, NM_002488.4:c.*142A>G, NR_033697.2:n.609A>G, NR_033697.1:n.764A>G, NM_001185012.2:c.*258A>G, NM_001185012.1:c.*258A>G

Select item 147827310418.

rs1478273104 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:140647192 (GRCh38)
5:140026777 (GRCh37)
Canonical SPDI:: NC_000005.10:140647191:C:G
Gene:: IK (Varview), NDUFA2 (Varview), TMCO6 (Varview), MIR3655 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_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_000005.10:g.140647192C>G, NC_000005.9:g.140026777C>G, NG_021417.1:g.5594G>C, XM_011537663.3:c.*375C>G, XM_011537663.2:c.*375C>G, XM_011537663.1:c.*375C>G, XM_047417354.1:c.*375C>G

Select item 147815452819.

rs1478154528 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:140648124 (GRCh38)
5:140027709 (GRCh37)
Canonical SPDI:: NC_000005.10:140648123:A:C
Gene:: IK (Varview), NDUFA2 (Varview), TMCO6 (Varview), MIR3655 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
C=0.000021/3 (GnomAD_exomes)
HGVS:: NC_000005.10:g.140648124A>C, NC_000005.9:g.140027709A>C, NG_021417.1:g.4662T>G

Select item 147781357620.

rs1477813576 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:140646185 (GRCh38)
5:140025770 (GRCh37)
Canonical SPDI:: NC_000005.10:140646184:A:G
Gene:: IK (Varview), NDUFA2 (Varview), TMCO6 (Varview), MIR3655 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.140646185A>G, NC_000005.9:g.140025770A>G, NG_021417.1:g.6601T>C

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