SNP Links for Gene (Select 7385) - SNP

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Select item 14913885411.

rs1491388541 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 16:21951396 (GRCh38)
16:21962718 (GRCh37)
Canonical SPDI:: NC_000016.10:21951396::T
Gene:: UQCRC2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000106/2 (TOMMO)
T=0.000378/51 (GnomAD)
HGVS:: NC_000016.10:g.21951396_21951397insT, NC_000016.9:g.21962717_21962718insT, NG_042228.1:g.3333_3334insT, NW_017852933.1:g.1153642_1153643insA

Select item 14913445212.

rs1491344521 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 16:21955076 (GRCh38)
16:21966397 (GRCh37)
Canonical SPDI:: NC_000016.10:21955075:TT:T,NC_000016.10:21955075:TT:TTT
Gene:: UQCRC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
-=0.000029/4 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.21955077del, NC_000016.10:g.21955077dup, NC_000016.9:g.21966398del, NC_000016.9:g.21966398dup, NG_042228.1:g.7014del, NG_042228.1:g.7014dup, NW_017852933.1:g.1149962del, NW_017852933.1:g.1149962dup

Select item 14910009353.

rs1491000935 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:21980608 (GRCh38)
16:21991929 (GRCh37)
Canonical SPDI:: NC_000016.10:21980607:G:A
Gene:: UQCRC2 (Varview), PDZD9 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.21980608G>A, NC_000016.9:g.21991929G>A, NG_042228.1:g.32545G>A, NM_003366.4:c.1186G>A, NM_003366.3:c.1186G>A, NM_003366.2:c.1186G>A, NW_017852933.1:g.1124430C>T, NP_003357.2:p.Val396Ile

Select item 14906492854.

rs1490649285 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:21959518 (GRCh38)
16:21970839 (GRCh37)
Canonical SPDI:: NC_000016.10:21959517:C:A
Gene:: UQCRC2 (Varview), PDZD9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.21959518C>A, NC_000016.9:g.21970839C>A, NG_042228.1:g.11455C>A, NW_017852933.1:g.1145520G>T

Select item 14906050685.

rs1490605068 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:21976883 (GRCh38)
16:21988204 (GRCh37)
Canonical SPDI:: NC_000016.10:21976882:A:G
Gene:: UQCRC2 (Varview), PDZD9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.21976883A>G, NC_000016.9:g.21988204A>G, NG_042228.1:g.28820A>G, NW_017852933.1:g.1128153T>C

Select item 14905447306.

rs1490544730 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:21976578 (GRCh38)
16:21987899 (GRCh37)
Canonical SPDI:: NC_000016.10:21976577:A:G
Gene:: UQCRC2 (Varview), PDZD9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.21976578A>G, NC_000016.9:g.21987899A>G, NG_042228.1:g.28515A>G, NW_017852933.1:g.1128458T>C

Select item 14905295497.

rs1490529549 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:21977690 (GRCh38)
16:21989011 (GRCh37)
Canonical SPDI:: NC_000016.10:21977689:T:C
Gene:: UQCRC2 (Varview), PDZD9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.21977690T>C, NC_000016.9:g.21989011T>C, NG_042228.1:g.29627T>C, NW_017852933.1:g.1127346A>G

Select item 14905053478.

rs1490505347 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:21971500 (GRCh38)
16:21982821 (GRCh37)
Canonical SPDI:: NC_000016.10:21971499:T:C
Gene:: UQCRC2 (Varview), PDZD9 (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)
HGVS:: NC_000016.10:g.21971500T>C, NC_000016.9:g.21982821T>C, NG_042228.1:g.23437T>C, NW_017852933.1:g.1133536A>G

Select item 14904470809.

rs1490447080 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>T
Chromosome:: no mapping
Canonical SPDI:

Select item 149026721310.

rs1490267213 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:21967739 (GRCh38)
16:21979060 (GRCh37)
Canonical SPDI:: NC_000016.10:21967738:T:G
Gene:: UQCRC2 (Varview), PDZD9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000026/7 (TOPMED)
HGVS:: NC_000016.10:g.21967739T>G, NC_000016.9:g.21979060T>G, NG_042228.1:g.19676T>G, NW_017852933.1:g.1137297A>C

Select item 149020965011.

rs1490209650 [Homo sapiens]

Variant type:: DELINS
Alleles:: TACCAC>- [Show Flanks]
Chromosome:: 16:21952129 (GRCh38)
16:21963450 (GRCh37)
Canonical SPDI:: NC_000016.10:21952127:CTACCAC:C
Gene:: UQCRC2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000029/4 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000016.10:g.21952129_21952134del, NC_000016.9:g.21963450_21963455del, NG_042228.1:g.4066_4071del, NW_017852933.1:g.1152906_1152911del

Select item 149011484912.

rs1490114849 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:21968759 (GRCh38)
16:21980080 (GRCh37)
Canonical SPDI:: NC_000016.10:21968758:A:G
Gene:: UQCRC2 (Varview), PDZD9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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_000016.10:g.21968759A>G, NC_000016.9:g.21980080A>G, NG_042228.1:g.20696A>G, NW_017852933.1:g.1136277T>C

Select item 149000751213.

rs1490007512 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:21958045 (GRCh38)
16:21969366 (GRCh37)
Canonical SPDI:: NC_000016.10:21958044:A:G
Gene:: UQCRC2 (Varview), PDZD9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.21958045A>G, NC_000016.9:g.21969366A>G, NG_042228.1:g.9982A>G, NW_017852933.1:g.1146993T>C

Select item 148983246614.

rs1489832466 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:21958983 (GRCh38)
16:21970304 (GRCh37)
Canonical SPDI:: NC_000016.10:21958982:A:G
Gene:: UQCRC2 (Varview), PDZD9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.21958983A>G, NC_000016.9:g.21970304A>G, NG_042228.1:g.10920A>G, NW_017852933.1:g.1146055T>C

Select item 148972695715.

rs1489726957 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:21955650 (GRCh38)
16:21966971 (GRCh37)
Canonical SPDI:: NC_000016.10:21955649:A:C
Gene:: UQCRC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.21955650A>C, NC_000016.9:g.21966971A>C, NG_042228.1:g.7587A>C, NW_017852933.1:g.1149388T>G

Select item 148945773516.

rs1489457735 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:21969747 (GRCh38)
16:21981068 (GRCh37)
Canonical SPDI:: NC_000016.10:21969746:C:T
Gene:: UQCRC2 (Varview), PDZD9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000016.10:g.21969747C>T, NC_000016.9:g.21981068C>T, NG_042228.1:g.21684C>T, NW_017852933.1:g.1135289G>A

Select item 148938448717.

rs1489384487 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:21976639 (GRCh38)
16:21987960 (GRCh37)
Canonical SPDI:: NC_000016.10:21976638:C:T
Gene:: UQCRC2 (Varview), PDZD9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.00005/7 (GnomAD)
HGVS:: NC_000016.10:g.21976639C>T, NC_000016.9:g.21987960C>T, NG_042228.1:g.28576C>T, NW_017852933.1:g.1128397G>A

Select item 148937427118.

rs1489374271 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:21974906 (GRCh38)
16:21986227 (GRCh37)
Canonical SPDI:: NC_000016.10:21974905:A:G
Gene:: UQCRC2 (Varview), PDZD9 (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_000016.10:g.21974906A>G, NC_000016.9:g.21986227A>G, NG_042228.1:g.26843A>G, NW_017852933.1:g.1130130T>C

Select item 148920801819.

rs1489208018 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:21956404 (GRCh38)
16:21967725 (GRCh37)
Canonical SPDI:: NC_000016.10:21956403:C:T
Gene:: UQCRC2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000071/1 (TOMMO)
T=0.000223/1 (Estonian)
T=0.000546/1 (Korea1K)
T=0.000684/2 (KOREAN)
HGVS:: NC_000016.10:g.21956404C>T, NC_000016.9:g.21967725C>T, NG_042228.1:g.8341C>T, NW_017852933.1:g.1148634G>A

Select item 148911370620.

rs1489113706 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 16:21970611 (GRCh38)
16:21981932 (GRCh37)
Canonical SPDI:: NC_000016.10:21970608:AGAG:AG
Gene:: UQCRC2 (Varview), PDZD9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.21970609AG[1], NC_000016.9:g.21981930AG[1], NG_042228.1:g.22546AG[1], NW_017852933.1:g.1134424CT[1]

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