SNP Links for Gene (Select 100616403) - SNP

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Select item 14903626991.

rs1490362699 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAG>- [Show Flanks]
Chromosome:: 11:68034285 (GRCh38)
11:67801752 (GRCh37)
Canonical SPDI:: NC_000011.10:68034283:GAGAG:G
Gene:: NDUFS8 (Varview), MIR4691 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.68034285_68034288del, NC_000011.9:g.67801752_67801755del, NG_017040.2:g.8606_8609del, NG_017040.1:g.8669_8672del, NG_007878.1:g.270_273del

Select item 14895184762.

rs1489518476 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:68033825 (GRCh38)
11:67801292 (GRCh37)
Canonical SPDI:: NC_000011.10:68033824:C:G,NC_000011.10:68033824:C:T
Gene:: NDUFS8 (Varview), MIR4691 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.68033825C>G, NC_000011.10:g.68033825C>T, NC_000011.9:g.67801292C>G, NC_000011.9:g.67801292C>T, NG_017040.2:g.8146C>G, NG_017040.2:g.8146C>T, NG_017040.1:g.8209C>G, NG_017040.1:g.8209C>T

Select item 14890737553.

rs1489073755 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:68032092 (GRCh38)
11:67799559 (GRCh37)
Canonical SPDI:: NC_000011.10:68032091:G:A
Gene:: NDUFS8 (Varview), MIR4691 (Varview), MIR7113 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.68032092G>A, NC_000011.9:g.67799559G>A, NG_017040.2:g.6413G>A, NG_017040.1:g.6476G>A

Select item 14871992684.

rs1487199268 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:68032933 (GRCh38)
11:67800400 (GRCh37)
Canonical SPDI:: NC_000011.10:68032932:C:G
Gene:: NDUFS8 (Varview), MIR4691 (Varview), MIR7113 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.68032933C>G, NC_000011.9:g.67800400C>G, NG_017040.2:g.7254C>G, NG_017040.1:g.7317C>G, NM_002496.4:c.120C>G, NM_002496.3:c.120C>G, NP_002487.1:p.Asn40Lys

Select item 14866205075.

rs1486620507 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 11:68034331 (GRCh38)
11:67801798 (GRCh37)
Canonical SPDI:: NC_000011.10:68034330:T:
Gene:: NDUFS8 (Varview), MIR4691 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency
MAF:: -=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.68034331del, NC_000011.9:g.67801798del, NG_017040.2:g.8652del, NG_017040.1:g.8715del, NG_007878.1:g.316del

Select item 14853032626.

rs1485303262 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:68032887 (GRCh38)
11:67800354 (GRCh37)
Canonical SPDI:: NC_000011.10:68032886:C:T
Gene:: NDUFS8 (Varview), MIR4691 (Varview), MIR7113 (Varview)
Functional Consequence:: non_coding_transcript_variant,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_000011.10:g.68032887C>T, NC_000011.9:g.67800354C>T, NG_017040.2:g.7208C>T, NG_017040.1:g.7271C>T, NR_106963.1:n.24C>T

Select item 14831383907.

rs1483138390 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:68033921 (GRCh38)
11:67801388 (GRCh37)
Canonical SPDI:: NC_000011.10:68033920:C:T
Gene:: NDUFS8 (Varview), MIR4691 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.68033921C>T, NC_000011.9:g.67801388C>T, NG_017040.2:g.8242C>T, NG_017040.1:g.8305C>T, NR_039840.1:n.25C>T

Select item 14824311328.

rs1482431132 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:68033072 (GRCh38)
11:67800539 (GRCh37)
Canonical SPDI:: NC_000011.10:68033071:G:A,NC_000011.10:68033071:G:T
Gene:: NDUFS8 (Varview), MIR4691 (Varview), MIR7113 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.68033072G>A, NC_000011.10:g.68033072G>T, NC_000011.9:g.67800539G>A, NC_000011.9:g.67800539G>T, NG_017040.2:g.7393G>A, NG_017040.2:g.7393G>T, NG_017040.1:g.7456G>A, NG_017040.1:g.7456G>T

Select item 14820985279.

rs1482098527 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:68033914 (GRCh38)
11:67801381 (GRCh37)
Canonical SPDI:: NC_000011.10:68033913:T:C
Gene:: NDUFS8 (Varview), MIR4691 (Varview)
Functional Consequence:: intron_variant,non_coding_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_000011.10:g.68033914T>C, NC_000011.9:g.67801381T>C, NG_017040.2:g.8235T>C, NG_017040.1:g.8298T>C, NR_039840.1:n.18T>C

Select item 148197803810.

rs1481978038 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:68032744 (GRCh38)
11:67800211 (GRCh37)
Canonical SPDI:: NC_000011.10:68032743:C:T
Gene:: NDUFS8 (Varview), MIR4691 (Varview), MIR7113 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_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_000011.10:g.68032744C>T, NC_000011.9:g.67800211C>T, NG_017040.2:g.7065C>T, NG_017040.1:g.7128C>T

Select item 148035721011.

rs1480357210 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:68033209 (GRCh38)
11:67800676 (GRCh37)
Canonical SPDI:: NC_000011.10:68033208:G:A
Gene:: NDUFS8 (Varview), MIR4691 (Varview), MIR7113 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.68033209G>A, NC_000011.9:g.67800676G>A, NG_017040.2:g.7530G>A, NG_017040.1:g.7593G>A, NM_002496.4:c.298G>A, NM_002496.3:c.298G>A, NP_002487.1:p.Ala100Thr

Select item 148001167312.

rs1480011673 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:68033430 (GRCh38)
11:67800897 (GRCh37)
Canonical SPDI:: NC_000011.10:68033429:G:C
Gene:: NDUFS8 (Varview), MIR4691 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.68033430G>C, NC_000011.9:g.67800897G>C, NG_017040.2:g.7751G>C, NG_017040.1:g.7814G>C

Select item 147829596713.

rs1478295967 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:68033448 (GRCh38)
11:67800915 (GRCh37)
Canonical SPDI:: NC_000011.10:68033447:T:C
Gene:: NDUFS8 (Varview), MIR4691 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.68033448T>C, NC_000011.9:g.67800915T>C, NG_017040.2:g.7769T>C, NG_017040.1:g.7832T>C

Select item 147710230614.

rs1477102306 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:68032210 (GRCh38)
11:67799677 (GRCh37)
Canonical SPDI:: NC_000011.10:68032209:G:A
Gene:: NDUFS8 (Varview), MIR4691 (Varview), MIR7113 (Varview)
Functional Consequence:: upstream_transcript_variant,splice_donor_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.68032210G>A, NC_000011.9:g.67799677G>A, NG_017040.2:g.6531G>A, NG_017040.1:g.6594G>A

Select item 147658096415.

rs1476580964 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:68034158 (GRCh38)
11:67801625 (GRCh37)
Canonical SPDI:: NC_000011.10:68034157:C:T
Gene:: NDUFS8 (Varview), MIR4691 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.68034158C>T, NC_000011.9:g.67801625C>T, NG_017040.2:g.8479C>T, NG_017040.1:g.8542C>T, NG_007878.1:g.143C>T

Select item 146993428916.

rs1469934289 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:68032641 (GRCh38)
11:67800108 (GRCh37)
Canonical SPDI:: NC_000011.10:68032640:C:A
Gene:: NDUFS8 (Varview), MIR4691 (Varview), MIR7113 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_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_000011.10:g.68032641C>A, NC_000011.9:g.67800108C>A, NG_017040.2:g.6962C>A, NG_017040.1:g.7025C>A

Select item 146963038817.

rs1469630388 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:68033145 (GRCh38)
11:67800612 (GRCh37)
Canonical SPDI:: NC_000011.10:68033144:A:C,NC_000011.10:68033144:A:G
Gene:: NDUFS8 (Varview), MIR4691 (Varview), MIR7113 (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,synonymous_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
C=0.002183/4 (Korea1K)
HGVS:: NC_000011.10:g.68033145A>C, NC_000011.10:g.68033145A>G, NC_000011.9:g.67800612A>C, NC_000011.9:g.67800612A>G, NG_017040.2:g.7466A>C, NG_017040.2:g.7466A>G, NG_017040.1:g.7529A>C, NG_017040.1:g.7529A>G, NM_002496.4:c.234A>C, NM_002496.4:c.234A>G, NM_002496.3:c.234A>C, NM_002496.3:c.234A>G, NP_002487.1:p.Glu78Asp

Select item 146903649018.

rs1469036490 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:68032119 (GRCh38)
11:67799586 (GRCh37)
Canonical SPDI:: NC_000011.10:68032118:C:T
Gene:: NDUFS8 (Varview), MIR4691 (Varview), MIR7113 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.68032119C>T, NC_000011.9:g.67799586C>T, NG_017040.2:g.6440C>T, NG_017040.1:g.6503C>T

Select item 146765738019.

rs1467657380 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:68033439 (GRCh38)
11:67800906 (GRCh37)
Canonical SPDI:: NC_000011.10:68033438:G:A
Gene:: NDUFS8 (Varview), MIR4691 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.0007/2 (KOREAN)
A=0.0011/2 (Korea1K)
HGVS:: NC_000011.10:g.68033439G>A, NC_000011.9:g.67800906G>A, NG_017040.2:g.7760G>A, NG_017040.1:g.7823G>A

Select item 146742168420.

rs1467421684 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:68033137 (GRCh38)
11:67800604 (GRCh37)
Canonical SPDI:: NC_000011.10:68033136:T:G
Gene:: NDUFS8 (Varview), MIR4691 (Varview), MIR7113 (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.68033137T>G, NC_000011.9:g.67800604T>G, NG_017040.2:g.7458T>G, NG_017040.1:g.7521T>G, NM_002496.4:c.226T>G, NM_002496.3:c.226T>G, NP_002487.1:p.Phe76Val

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