SNP Links for Gene (Select 79133) - SNP

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Select item 14914689961.

rs1491468996 has merged into rs71188187 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGT>-,GT,GTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 20:13787079 (GRCh38)
20:13767725 (GRCh37)
Canonical SPDI:: NC_000020.11:13787065:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000020.11:13787065:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000020.11:13787065:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000020.11:13787065:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000020.11:13787065:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:13787065:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:13787065:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: NDUFAF5 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.007008/1855 (TOPMED)
TG=0.157947/791 (1000Genomes)
HGVS:: NC_000020.11:g.13787067GT[6], NC_000020.11:g.13787067GT[7], NC_000020.11:g.13787067GT[8], NC_000020.11:g.13787067GT[10], NC_000020.11:g.13787067GT[11], NC_000020.11:g.13787067GT[12], NC_000020.11:g.13787067GT[13], NC_000020.10:g.13767713GT[6], NC_000020.10:g.13767713GT[7], NC_000020.10:g.13767713GT[8], NC_000020.10:g.13767713GT[10], NC_000020.10:g.13767713GT[11], NC_000020.10:g.13767713GT[12], NC_000020.10:g.13767713GT[13], NG_015811.1:g.7042GT[6], NG_015811.1:g.7042GT[7], NG_015811.1:g.7042GT[8], NG_015811.1:g.7042GT[10], NG_015811.1:g.7042GT[11], NG_015811.1:g.7042GT[12], NG_015811.1:g.7042GT[13], XM_047440472.1:c.-604GT[6], XM_047440472.1:c.-604GT[7], XM_047440472.1:c.-604GT[8], XM_047440472.1:c.-604GT[10], XM_047440472.1:c.-604GT[11], XM_047440472.1:c.-604GT[12], XM_047440472.1:c.-604GT[13]

Select item 14910339532.

rs1491033953 has merged into rs11472201 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:13802681 (GRCh38)
20:13783327 (GRCh37)
Canonical SPDI:: NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:13802671:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NDUFAF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.13802681_13802690del, NC_000020.11:g.13802682_13802690del, NC_000020.11:g.13802683_13802690del, NC_000020.11:g.13802684_13802690del, NC_000020.11:g.13802685_13802690del, NC_000020.11:g.13802686_13802690del, NC_000020.11:g.13802687_13802690del, NC_000020.11:g.13802688_13802690del, NC_000020.11:g.13802689_13802690del, NC_000020.11:g.13802690del, NC_000020.11:g.13802690dup, NC_000020.11:g.13802689_13802690dup, NC_000020.11:g.13802688_13802690dup, NC_000020.11:g.13802687_13802690dup, NC_000020.11:g.13802686_13802690dup, NC_000020.11:g.13802685_13802690dup, NC_000020.11:g.13802684_13802690dup, NC_000020.10:g.13783327_13783336del, NC_000020.10:g.13783328_13783336del, NC_000020.10:g.13783329_13783336del, NC_000020.10:g.13783330_13783336del, NC_000020.10:g.13783331_13783336del, NC_000020.10:g.13783332_13783336del, NC_000020.10:g.13783333_13783336del, NC_000020.10:g.13783334_13783336del, NC_000020.10:g.13783335_13783336del, NC_000020.10:g.13783336del, NC_000020.10:g.13783336dup, NC_000020.10:g.13783335_13783336dup, NC_000020.10:g.13783334_13783336dup, NC_000020.10:g.13783333_13783336dup, NC_000020.10:g.13783332_13783336dup, NC_000020.10:g.13783331_13783336dup, NC_000020.10:g.13783330_13783336dup, NG_015811.1:g.22656_22665del, NG_015811.1:g.22657_22665del, NG_015811.1:g.22658_22665del, NG_015811.1:g.22659_22665del, NG_015811.1:g.22660_22665del, NG_015811.1:g.22661_22665del, NG_015811.1:g.22662_22665del, NG_015811.1:g.22663_22665del, NG_015811.1:g.22664_22665del, NG_015811.1:g.22665del, NG_015811.1:g.22665dup, NG_015811.1:g.22664_22665dup, NG_015811.1:g.22663_22665dup, NG_015811.1:g.22662_22665dup, NG_015811.1:g.22661_22665dup, NG_015811.1:g.22660_22665dup, NG_015811.1:g.22659_22665dup, NW_025791811.1:g.11232_11241del, NW_025791811.1:g.11233_11241del, NW_025791811.1:g.11234_11241del, NW_025791811.1:g.11235_11241del, NW_025791811.1:g.11236_11241del, NW_025791811.1:g.11237_11241del, NW_025791811.1:g.11238_11241del, NW_025791811.1:g.11239_11241del, NW_025791811.1:g.11240_11241del, NW_025791811.1:g.11241del, NW_025791811.1:g.11241dup, NW_025791811.1:g.11240_11241dup, NW_025791811.1:g.11239_11241dup, NW_025791811.1:g.11238_11241dup, NW_025791811.1:g.11237_11241dup, NW_025791811.1:g.11236_11241dup, NW_025791811.1:g.11235_11241dup

Select item 14910253783.

rs1491025378 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 20:13801185 (GRCh38)
20:13781831 (GRCh37)
Canonical SPDI:: NC_000020.11:13801181:TCTCT:TCT
Gene:: NDUFAF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.13801183CT[1], NC_000020.10:g.13781829CT[1], NG_015811.1:g.21158CT[1], NW_025791811.1:g.9734CT[1]

Select item 14908816064.

rs1490881606 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:13795237 (GRCh38)
20:13775883 (GRCh37)
Canonical SPDI:: NC_000020.11:13795236:C:T
Gene:: NDUFAF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.13795237C>T, NC_000020.10:g.13775883C>T, NG_015811.1:g.15212C>T, NW_025791811.1:g.3788C>T

Select item 14907391965.

rs1490739196 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 20:13814687 (GRCh38)
20:13795333 (GRCh37)
Canonical SPDI:: NC_000020.11:13814686:GG:G
Gene:: NDUFAF5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.13814688del, NC_000020.10:g.13795334del, NG_015811.1:g.34663del, NW_025791811.1:g.23239del

Select item 14904354876.

rs1490435487 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 20:13793153 (GRCh38)
20:13773799 (GRCh37)
Canonical SPDI:: NC_000020.11:13793152:G:
Gene:: NDUFAF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.13793153del, NC_000020.10:g.13773799del, NG_015811.1:g.13128del, NW_025791811.1:g.1704del

Select item 14904283237.

rs1490428323 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:13820085 (GRCh38)
20:13800731 (GRCh37)
Canonical SPDI:: NC_000020.11:13820084:G:A
Gene:: NDUFAF5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.13820085G>A, NC_000020.10:g.13800731G>A, NG_015811.1:g.40060G>A, NM_024120.5:c.*2875G>A, NM_001039375.3:c.*2875G>A, NR_147982.2:n.4242G>A, NR_147981.2:n.4186G>A, NR_147983.2:n.4102G>A, NM_001352407.2:c.*2875G>A, NR_147979.2:n.4072G>A, NR_029377.2:n.4052G>A, NR_147978.2:n.4010G>A, NM_001352406.2:c.*2875G>A, NR_147980.2:n.3948G>A, NM_001352403.2:c.*2875G>A, NW_025791811.1:g.28636G>A, XM_006723624.3:c.*2875G>A, XM_047440472.1:c.*2875G>A, XM_047440471.1:c.*2875G>A, XM_047440469.1:c.*2875G>A, XM_047440473.1:c.*2875G>A

Select item 14904048268.

rs1490404826 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:13804404 (GRCh38)
20:13785050 (GRCh37)
Canonical SPDI:: NC_000020.11:13804403:T:G
Gene:: NDUFAF5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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_000020.11:g.13804404T>G, NC_000020.10:g.13785050T>G, NG_015811.1:g.24379T>G, NW_025791811.1:g.12955T>G

Select item 14903772769.

rs1490377276 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:13820925 (GRCh38)
20:13801571 (GRCh37)
Canonical SPDI:: NC_000020.11:13820924:G:A
Gene:: NDUFAF5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.13820925G>A, NC_000020.10:g.13801571G>A, NW_025791811.1:g.29476G>A, NM_024120.5:c.*3715G>A, XM_006723624.3:c.*3715G>A, NM_001039375.3:c.*3715G>A, NR_147982.2:n.5082G>A, NR_147981.2:n.5026G>A, NR_147983.2:n.4942G>A, NM_001352407.2:c.*3715G>A, NR_147979.2:n.4912G>A, NR_029377.2:n.4892G>A, NR_147978.2:n.4850G>A, NM_001352406.2:c.*3715G>A, NR_147980.2:n.4788G>A, NM_001352403.2:c.*3715G>A, XM_047440472.1:c.*3715G>A, XM_047440471.1:c.*3715G>A, XM_047440469.1:c.*3715G>A, XM_047440473.1:c.*3715G>A

Select item 149034725310.

rs1490347253 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 20:13789184 (GRCh38)
20:13769830 (GRCh37)
Canonical SPDI:: NC_000020.11:13789183:A:C,NC_000020.11:13789183:A:T
Gene:: NDUFAF5 (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)
HGVS:: NC_000020.11:g.13789184A>C, NC_000020.11:g.13789184A>T, NC_000020.10:g.13769830A>C, NC_000020.10:g.13769830A>T, NG_015811.1:g.9159A>C, NG_015811.1:g.9159A>T

Select item 149026595511.

rs1490265955 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:13804767 (GRCh38)
20:13785413 (GRCh37)
Canonical SPDI:: NC_000020.11:13804766:T:C
Gene:: NDUFAF5 (Varview)
Functional Consequence:: genic_downstream_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_000020.11:g.13804767T>C, NC_000020.10:g.13785413T>C, NG_015811.1:g.24742T>C, NW_025791811.1:g.13318T>C

Select item 149024034012.

rs1490240340 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:13804867 (GRCh38)
20:13785513 (GRCh37)
Canonical SPDI:: NC_000020.11:13804866:C:T
Gene:: NDUFAF5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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_000020.11:g.13804867C>T, NC_000020.10:g.13785513C>T, NG_015811.1:g.24842C>T, NW_025791811.1:g.13418C>T

Select item 149017061313.

rs1490170613 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:13812619 (GRCh38)
20:13793265 (GRCh37)
Canonical SPDI:: NC_000020.11:13812618:C:A
Gene:: NDUFAF5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.13812619C>A, NC_000020.10:g.13793265C>A, NG_015811.1:g.32594C>A, NW_025791811.1:g.21170C>A

Select item 149015216914.

rs1490152169 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 20:13797841 (GRCh38)
20:13778488 (GRCh37)
Canonical SPDI:: NC_000020.11:13797841:AAAAAAA:AAAAAAAA
Gene:: NDUFAF5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.13797848dup, NC_000020.10:g.13778494dup, NG_015811.1:g.17823dup, NW_025791811.1:g.6399dup

Select item 149011000415.

rs1490110004 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:13785161 (GRCh38)
20:13765807 (GRCh37)
Canonical SPDI:: NC_000020.11:13785160:T:C
Gene:: ESF1 (Varview), NDUFAF5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.13785161T>C, NC_000020.10:g.13765807T>C, NG_015811.1:g.5136T>C, NM_024120.5:c.93T>C, NM_024120.4:c.93T>C, NM_001039375.3:c.93T>C, NM_001039375.2:c.93T>C, NR_147982.2:n.134T>C, NR_147982.1:n.136T>C, NR_147981.2:n.134T>C, NR_147981.1:n.136T>C, NR_147983.2:n.134T>C, NR_147983.1:n.136T>C, NM_001352407.2:c.-603T>C, NM_001352407.1:c.-603T>C, NR_147979.2:n.134T>C, NR_147979.1:n.136T>C, NR_029377.2:n.134T>C, NR_029377.1:n.136T>C, NR_147978.2:n.134T>C, NR_147978.1:n.136T>C, NM_001352406.2:c.-489T>C, NM_001352406.1:c.-489T>C, NR_147980.2:n.134T>C, NR_147980.1:n.136T>C, NM_001352403.2:c.-275T>C, NM_001352403.1:c.-275T>C, NM_001352408.2:c.93T>C, NM_001352408.1:c.93T>C, XM_006723624.3:c.-409T>C, XM_006723624.2:c.-409T>C, XM_006723624.1:c.-409T>C, XM_011529342.3:c.93T>C, XM_011529342.2:c.93T>C, XM_011529342.1:c.93T>C, XR_937140.3:n.134T>C, XR_937140.2:n.113T>C, XR_937140.1:n.113T>C, XM_047440469.1:c.93T>C, NM_199052.1:c.93T>C, XM_047440470.1:c.93T>C

Select item 149007868516.

rs1490078685 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:13813839 (GRCh38)
20:13794485 (GRCh37)
Canonical SPDI:: NC_000020.11:13813838:C:T
Gene:: NDUFAF5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.13813839C>T, NC_000020.10:g.13794485C>T, NG_015811.1:g.33814C>T, NW_025791811.1:g.22390C>T

Select item 148995722417.

rs1489957224 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:13812125 (GRCh38)
20:13792771 (GRCh37)
Canonical SPDI:: NC_000020.11:13812124:C:G,NC_000020.11:13812124:C:T
Gene:: NDUFAF5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.13812125C>G, NC_000020.11:g.13812125C>T, NC_000020.10:g.13792771C>G, NC_000020.10:g.13792771C>T, NG_015811.1:g.32100C>G, NG_015811.1:g.32100C>T, NW_025791811.1:g.20676C>G, NW_025791811.1:g.20676C>T

Select item 148991511518.

rs1489915115 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:13814264 (GRCh38)
20:13794910 (GRCh37)
Canonical SPDI:: NC_000020.11:13814263:C:G
Gene:: NDUFAF5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.13814264C>G, NC_000020.10:g.13794910C>G, NG_015811.1:g.34239C>G, NW_025791811.1:g.22815C>G

Select item 148957441819.

rs1489574418 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:13807698 (GRCh38)
20:13788344 (GRCh37)
Canonical SPDI:: NC_000020.11:13807697:C:T
Gene:: NDUFAF5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.13807698C>T, NC_000020.10:g.13788344C>T, NG_015811.1:g.27673C>T, NW_025791811.1:g.16249C>T

Select item 148951986620.

rs1489519866 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:13817723 (GRCh38)
20:13798369 (GRCh37)
Canonical SPDI:: NC_000020.11:13817722:T:G
Gene:: NDUFAF5 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.13817723T>G, NC_000020.10:g.13798369T>G, NG_015811.1:g.37698T>G, NM_024120.5:c.*513T>G, NM_024120.4:c.*513T>G, NM_001039375.3:c.*513T>G, NM_001039375.2:c.*513T>G, NR_147982.2:n.1880T>G, NR_147982.1:n.1882T>G, NR_147981.2:n.1824T>G, NR_147981.1:n.1826T>G, NR_147983.2:n.1740T>G, NR_147983.1:n.1742T>G, NM_001352407.2:c.*513T>G, NM_001352407.1:c.*513T>G, NR_147979.2:n.1710T>G, NR_147979.1:n.1712T>G, NR_029377.2:n.1690T>G, NR_029377.1:n.1692T>G, NR_147978.2:n.1648T>G, NR_147978.1:n.1650T>G, NM_001352406.2:c.*513T>G, NM_001352406.1:c.*513T>G, NR_147980.2:n.1586T>G, NR_147980.1:n.1588T>G, NM_001352403.2:c.*513T>G, NM_001352403.1:c.*513T>G, NW_025791811.1:g.26274T>G, XM_006723624.3:c.*513T>G, XM_047440472.1:c.*513T>G, XM_047440471.1:c.*513T>G, XM_047440469.1:c.*513T>G, XM_047440473.1:c.*513T>G, NM_199052.1:c.*845T>G

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