SNP Links for Gene (Select 400673) - SNP

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Select item 14914496291.

rs1491449629 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:5903028 (GRCh38)
19:5903039 (GRCh37)
Canonical SPDI:: NC_000019.10:5903027:AG:
Gene:: NDUFA11 (Varview), VMAC (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000052/7 (GnomAD)
HGVS:: NC_000019.10:g.5903028_5903029del, NC_000019.9:g.5903039_5903040del, NG_027808.1:g.5985_5986del, NW_025791810.1:g.76597_76598del

Select item 14912848782.

rs1491284878 [Homo sapiens]

Variant type:: INS
Alleles:: ->AT [Show Flanks]
Chromosome:: 19:5903028 (GRCh38)
19:5903040 (GRCh37)
Canonical SPDI:: NC_000019.10:5903028::AT
Gene:: NDUFA11 (Varview), VMAC (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AT=0.000084/1 (ALFA)
AT=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.5903028_5903029insAT, NC_000019.9:g.5903039_5903040insAT, NG_027808.1:g.5985_5986insAT, NW_025791810.1:g.76597_76598insAT

Select item 14900483933.

rs1490048393 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:5909153 (GRCh38)
19:5909164 (GRCh37)
Canonical SPDI:: NC_000019.10:5909152:C:T
Gene:: VMAC (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.5909153C>T, NC_000019.9:g.5909164C>T, NW_025791810.1:g.82722C>T, NM_001017921.4:c.*11C>T, NM_001017921.3:c.*11C>T

Select item 14899906934.

rs1489990693 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:5906686 (GRCh38)
19:5906697 (GRCh37)
Canonical SPDI:: NC_000019.10:5906685:G:A
Gene:: VMAC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.5906686G>A, NC_000019.9:g.5906697G>A, NG_027808.1:g.2328C>T, NW_025791810.1:g.80255G>A

Select item 14891626305.

rs1489162630 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:5904544 (GRCh38)
19:5904555 (GRCh37)
Canonical SPDI:: NC_000019.10:5904543:T:C
Gene:: NDUFA11 (Varview), VMAC (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_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_000019.10:g.5904544T>C, NC_000019.9:g.5904555T>C, NG_027808.1:g.4470A>G, NW_025791810.1:g.78113T>C

Select item 14890651326.

rs1489065132 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAACAACAACA>- [Show Flanks]
Chromosome:: 19:5910690 (GRCh38)
19:5910701 (GRCh37)
Canonical SPDI:: NC_000019.10:5910688:ACAACAACAACA:A
Gene:: VMAC (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.5910690_5910700del, NC_000019.9:g.5910701_5910711del, NW_025791810.1:g.84259_84269del, NM_001017921.4:c.*1548_*1558del

Select item 14885363617.

rs1488536361 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:5904945 (GRCh38)
19:5904956 (GRCh37)
Canonical SPDI:: NC_000019.10:5904944:G:A,NC_000019.10:5904944:G:C
Gene:: NDUFA11 (Varview), VMAC (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000012/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.5904945G>A, NC_000019.10:g.5904945G>C, NC_000019.9:g.5904956G>A, NC_000019.9:g.5904956G>C, NG_027808.1:g.4069C>T, NG_027808.1:g.4069C>G, NW_025791810.1:g.78514G>A, NW_025791810.1:g.78514G>C, NM_001017921.4:c.55G>A, NM_001017921.4:c.55G>C, NM_001017921.3:c.55G>A, NM_001017921.3:c.55G>C, NP_001017921.1:p.Val19Met, NP_001017921.1:p.Val19Leu

Select item 14884812878.

rs1488481287 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:5905230 (GRCh38)
19:5905241 (GRCh37)
Canonical SPDI:: NC_000019.10:5905229:C:T
Gene:: NDUFA11 (Varview), VMAC (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000026/7 (TOPMED)
HGVS:: NC_000019.10:g.5905230C>T, NC_000019.9:g.5905241C>T, NG_027808.1:g.3784G>A, NW_025791810.1:g.78799C>T

Select item 14884464879.

rs1488446487 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:5910486 (GRCh38)
19:5910497 (GRCh37)
Canonical SPDI:: NC_000019.10:5910485:C:G
Gene:: VMAC (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.5910486C>G, NC_000019.9:g.5910497C>G, NW_025791810.1:g.84055C>G, NM_001017921.4:c.*1344C>G

Select item 148797324010.

rs1487973240 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:5910485 (GRCh38)
19:5910496 (GRCh37)
Canonical SPDI:: NC_000019.10:5910484:T:A
Gene:: VMAC (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.5910485T>A, NC_000019.9:g.5910496T>A, NW_025791810.1:g.84054T>A, NM_001017921.4:c.*1343T>A

Select item 148771798611.

rs1487717986 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:5903984 (GRCh38)
19:5903995 (GRCh37)
Canonical SPDI:: NC_000019.10:5903983:T:G
Gene:: NDUFA11 (Varview), VMAC (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.5903984T>G, NC_000019.9:g.5903995T>G, NG_027808.1:g.5030A>C, NG_059309.1:g.407T>G, NW_025791810.1:g.77553T>G, NM_175614.4:c.-276A>C, NR_034166.2:n.30A>C, NM_001193375.1:c.-276A>C

Select item 148715525612.

rs1487155256 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:5906631 (GRCh38)
19:5906642 (GRCh37)
Canonical SPDI:: NC_000019.10:5906630:C:T
Gene:: VMAC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.00003/8 (TOPMED)
T=0.000071/1 (TOMMO)
T=0.000546/1 (Korea1K)
T=0.000684/2 (KOREAN)
HGVS:: NC_000019.10:g.5906631C>T, NC_000019.9:g.5906642C>T, NG_027808.1:g.2383G>A, NW_025791810.1:g.80200C>T

Select item 148708845113.

rs1487088451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:5903749 (GRCh38)
19:5903760 (GRCh37)
Canonical SPDI:: NC_000019.10:5903748:C:G,NC_000019.10:5903748:C:T
Gene:: NDUFA11 (Varview), VMAC (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.5903749C>G, NC_000019.10:g.5903749C>T, NC_000019.9:g.5903760C>G, NC_000019.9:g.5903760C>T, NG_027808.1:g.5265G>C, NG_027808.1:g.5265G>A, NM_175614.5:c.-41G>C, NM_175614.5:c.-41G>A, NM_175614.4:c.-41G>C, NM_175614.4:c.-41G>A, NM_001193375.3:c.-41G>C, NM_001193375.3:c.-41G>A, NM_001193375.2:c.-41G>C, NM_001193375.2:c.-41G>A, NM_001193375.1:c.-41G>C, NM_001193375.1:c.-41G>A, NR_034166.3:n.42G>C, NR_034166.3:n.42G>A, NR_034166.2:n.265G>C, NR_034166.2:n.265G>A, NG_059309.1:g.172C>G, NG_059309.1:g.172C>T, NW_025791810.1:g.77318C>G, NW_025791810.1:g.77318C>T

Select item 148679034014.

rs1486790340 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:5910368 (GRCh38)
19:5910379 (GRCh37)
Canonical SPDI:: NC_000019.10:5910367:C:T
Gene:: VMAC (Varview)
Functional Consequence:: 3_prime_UTR_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_000019.10:g.5910368C>T, NC_000019.9:g.5910379C>T, NW_025791810.1:g.83937C>T, NM_001017921.4:c.*1226C>T

Select item 148659124915.

rs1486591249 has merged into rs771762988 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:5907621 (GRCh38)
19:5907632 (GRCh37)
Canonical SPDI:: NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:5907610:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: VMAC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.35/14 (GENOME_DK)
HGVS:: NC_000019.10:g.5907621_5907636del, NC_000019.10:g.5907624_5907636del, NC_000019.10:g.5907625_5907636del, NC_000019.10:g.5907626_5907636del, NC_000019.10:g.5907627_5907636del, NC_000019.10:g.5907628_5907636del, NC_000019.10:g.5907629_5907636del, NC_000019.10:g.5907630_5907636del, NC_000019.10:g.5907631_5907636del, NC_000019.10:g.5907632_5907636del, NC_000019.10:g.5907633_5907636del, NC_000019.10:g.5907634_5907636del, NC_000019.10:g.5907635_5907636del, NC_000019.10:g.5907636del, NC_000019.10:g.5907636dup, NC_000019.10:g.5907635_5907636dup, NC_000019.10:g.5907634_5907636dup, NC_000019.10:g.5907633_5907636dup, NC_000019.10:g.5907632_5907636dup, NC_000019.10:g.5907631_5907636dup, NC_000019.10:g.5907630_5907636dup, NC_000019.10:g.5907629_5907636dup, NC_000019.10:g.5907628_5907636dup, NC_000019.10:g.5907627_5907636dup, NC_000019.10:g.5907626_5907636dup, NC_000019.10:g.5907625_5907636dup, NC_000019.10:g.5907624_5907636dup, NC_000019.10:g.5907623_5907636dup, NC_000019.10:g.5907622_5907636dup, NC_000019.10:g.5907621_5907636dup, NC_000019.10:g.5907619_5907636dup, NC_000019.10:g.5907617_5907636dup, NC_000019.10:g.5907615_5907636dup, NC_000019.10:g.5907614_5907636dup, NC_000019.10:g.5907613_5907636dup, NC_000019.10:g.5907612_5907636dup, NC_000019.10:g.5907636_5907637insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.5907636_5907637insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.5907636_5907637insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.5907636_5907637insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.5907611_5907636A[32]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000019.9:g.5907632_5907647del, NC_000019.9:g.5907635_5907647del, NC_000019.9:g.5907636_5907647del, NC_000019.9:g.5907637_5907647del, NC_000019.9:g.5907638_5907647del, NC_000019.9:g.5907639_5907647del, NC_000019.9:g.5907640_5907647del, NC_000019.9:g.5907641_5907647del, NC_000019.9:g.5907642_5907647del, NC_000019.9:g.5907643_5907647del, NC_000019.9:g.5907644_5907647del, NC_000019.9:g.5907645_5907647del, NC_000019.9:g.5907646_5907647del, NC_000019.9:g.5907647del, NC_000019.9:g.5907647dup, NC_000019.9:g.5907646_5907647dup, NC_000019.9:g.5907645_5907647dup, NC_000019.9:g.5907644_5907647dup, NC_000019.9:g.5907643_5907647dup, NC_000019.9:g.5907642_5907647dup, NC_000019.9:g.5907641_5907647dup, NC_000019.9:g.5907640_5907647dup, NC_000019.9:g.5907639_5907647dup, NC_000019.9:g.5907638_5907647dup, NC_000019.9:g.5907637_5907647dup, NC_000019.9:g.5907636_5907647dup, NC_000019.9:g.5907635_5907647dup, NC_000019.9:g.5907634_5907647dup, NC_000019.9:g.5907633_5907647dup, NC_000019.9:g.5907632_5907647dup, NC_000019.9:g.5907630_5907647dup, NC_000019.9:g.5907628_5907647dup, NC_000019.9:g.5907626_5907647dup, NC_000019.9:g.5907625_5907647dup, NC_000019.9:g.5907624_5907647dup, NC_000019.9:g.5907623_5907647dup, NC_000019.9:g.5907647_5907648insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.5907647_5907648insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.5907647_5907648insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.5907647_5907648insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.5907622_5907647A[32]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_027808.1:g.1388_1403del, NG_027808.1:g.1391_1403del, NG_027808.1:g.1392_1403del, NG_027808.1:g.1393_1403del, NG_027808.1:g.1394_1403del, NG_027808.1:g.1395_1403del, NG_027808.1:g.1396_1403del, NG_027808.1:g.1397_1403del, NG_027808.1:g.1398_1403del, NG_027808.1:g.1399_1403del, NG_027808.1:g.1400_1403del, NG_027808.1:g.1401_1403del, NG_027808.1:g.1402_1403del, NG_027808.1:g.1403del, NG_027808.1:g.1403dup, NG_027808.1:g.1402_1403dup, NG_027808.1:g.1401_1403dup, NG_027808.1:g.1400_1403dup, NG_027808.1:g.1399_1403dup, NG_027808.1:g.1398_1403dup, NG_027808.1:g.1397_1403dup, NG_027808.1:g.1396_1403dup, NG_027808.1:g.1395_1403dup, NG_027808.1:g.1394_1403dup, NG_027808.1:g.1393_1403dup, NG_027808.1:g.1392_1403dup, NG_027808.1:g.1391_1403dup, NG_027808.1:g.1390_1403dup, NG_027808.1:g.1389_1403dup, NG_027808.1:g.1388_1403dup, NG_027808.1:g.1386_1403dup, NG_027808.1:g.1384_1403dup, NG_027808.1:g.1382_1403dup, NG_027808.1:g.1381_1403dup, NG_027808.1:g.1380_1403dup, NG_027808.1:g.1379_1403dup, NG_027808.1:g.1403_1404insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027808.1:g.1403_1404insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027808.1:g.1403_1404insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027808.1:g.1403_1404insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027808.1:g.1378_1403T[29]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NW_025791810.1:g.81190_81205del, NW_025791810.1:g.81193_81205del, NW_025791810.1:g.81194_81205del, NW_025791810.1:g.81195_81205del, NW_025791810.1:g.81196_81205del, NW_025791810.1:g.81197_81205del, NW_025791810.1:g.81198_81205del, NW_025791810.1:g.81199_81205del, NW_025791810.1:g.81200_81205del, NW_025791810.1:g.81201_81205del, NW_025791810.1:g.81202_81205del, NW_025791810.1:g.81203_81205del, NW_025791810.1:g.81204_81205del, NW_025791810.1:g.81205del, NW_025791810.1:g.81205dup, NW_025791810.1:g.81204_81205dup, NW_025791810.1:g.81203_81205dup, NW_025791810.1:g.81202_81205dup, NW_025791810.1:g.81201_81205dup, NW_025791810.1:g.81200_81205dup, NW_025791810.1:g.81199_81205dup, NW_025791810.1:g.81198_81205dup, NW_025791810.1:g.81197_81205dup, NW_025791810.1:g.81196_81205dup, NW_025791810.1:g.81195_81205dup, NW_025791810.1:g.81194_81205dup, NW_025791810.1:g.81193_81205dup, NW_025791810.1:g.81192_81205dup, NW_025791810.1:g.81191_81205dup, NW_025791810.1:g.81190_81205dup, NW_025791810.1:g.81188_81205dup, NW_025791810.1:g.81186_81205dup, NW_025791810.1:g.81184_81205dup, NW_025791810.1:g.81183_81205dup, NW_025791810.1:g.81182_81205dup, NW_025791810.1:g.81181_81205dup, NW_025791810.1:g.81205_81206insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_025791810.1:g.81205_81206insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_025791810.1:g.81205_81206insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_025791810.1:g.81205_81206insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_025791810.1:g.81180_81205A[32]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 148657449216.

rs1486574492 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 19:5903714 (GRCh38)
19:5903725 (GRCh37)
Canonical SPDI:: NC_000019.10:5903713:G:A,NC_000019.10:5903713:G:C,NC_000019.10:5903713:G:T
Gene:: NDUFA11 (Varview), VMAC (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000006/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.5903714G>A, NC_000019.10:g.5903714G>C, NC_000019.10:g.5903714G>T, NC_000019.9:g.5903725G>A, NC_000019.9:g.5903725G>C, NC_000019.9:g.5903725G>T, NG_027808.1:g.5300C>T, NG_027808.1:g.5300C>G, NG_027808.1:g.5300C>A, NM_175614.5:c.-6C>T, NM_175614.5:c.-6C>G, NM_175614.5:c.-6C>A, NM_175614.4:c.-6C>T, NM_175614.4:c.-6C>G, NM_175614.4:c.-6C>A, NM_001193375.3:c.-6C>T, NM_001193375.3:c.-6C>G, NM_001193375.3:c.-6C>A, NM_001193375.2:c.-6C>T, NM_001193375.2:c.-6C>G, NM_001193375.2:c.-6C>A, NM_001193375.1:c.-6C>T, NM_001193375.1:c.-6C>G, NM_001193375.1:c.-6C>A, NR_034166.3:n.77C>T, NR_034166.3:n.77C>G, NR_034166.3:n.77C>A, NR_034166.2:n.300C>T, NR_034166.2:n.300C>G, NR_034166.2:n.300C>A, NG_059309.1:g.137G>A, NG_059309.1:g.137G>C, NG_059309.1:g.137G>T, NW_025791810.1:g.77283G>A, NW_025791810.1:g.77283G>C, NW_025791810.1:g.77283G>T

Select item 148608880517.

rs1486088805 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:5903688 (GRCh38)
19:5903699 (GRCh37)
Canonical SPDI:: NC_000019.10:5903687:A:T
Gene:: NDUFA11 (Varview), VMAC (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_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_000019.10:g.5903688A>T, NC_000019.9:g.5903699A>T, NG_027808.1:g.5326T>A, NM_175614.5:c.21T>A, NM_175614.4:c.21T>A, NM_001193375.3:c.21T>A, NM_001193375.2:c.21T>A, NM_001193375.1:c.21T>A, NR_034166.3:n.103T>A, NR_034166.2:n.326T>A, NG_059309.1:g.111A>T, NW_025791810.1:g.77257A>T

Select item 148527121918.

rs1485271219 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:5903064 (GRCh38)
19:5903075 (GRCh37)
Canonical SPDI:: NC_000019.10:5903063:C:G,NC_000019.10:5903063:C:T
Gene:: NDUFA11 (Varview), VMAC (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.5903064C>G, NC_000019.10:g.5903064C>T, NC_000019.9:g.5903075C>G, NC_000019.9:g.5903075C>T, NG_027808.1:g.5950G>C, NG_027808.1:g.5950G>A, NW_025791810.1:g.76633C>G, NW_025791810.1:g.76633C>T

Select item 148495676519.

rs1484956765 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:5905444 (GRCh38)
19:5905455 (GRCh37)
Canonical SPDI:: NC_000019.10:5905443:A:G
Gene:: NDUFA11 (Varview), VMAC (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000447/2 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000446/2 (Estonian)
HGVS:: NC_000019.10:g.5905444A>G, NC_000019.9:g.5905455A>G, NG_027808.1:g.3570T>C, NW_025791810.1:g.79013A>G

Select item 148477142520.

rs1484771425 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:5910571 (GRCh38)
19:5910582 (GRCh37)
Canonical SPDI:: NC_000019.10:5910570:C:G
Gene:: VMAC (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
G=0.001638/3 (Korea1K)
HGVS:: NC_000019.10:g.5910571C>G, NC_000019.9:g.5910582C>G, NW_025791810.1:g.84140C>G, NM_001017921.4:c.*1429C>G

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