SNP Links for Gene (Select 6576) - SNP

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Select item 14915644791.

rs1491564479 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:19175881 (GRCh38)
22:19163394 (GRCh37)
Canonical SPDI:: NC_000022.11:19175877:ACACA:ACA
Gene:: SLC25A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000236/3 (GnomAD)
HGVS:: NC_000022.11:g.19175879CA[1], NW_003871096.1:g.29096CA[1], NG_033863.1:g.7983GT[1], NM_005984.5:c.*249GT[1], NM_005984.4:c.*249GT[1], NM_005984.3:c.*249GT[1], NR_046298.3:n.1109GT[1], NR_046298.2:n.1236GT[1], NR_046298.1:n.1198GT[1], NM_001256534.2:c.*249GT[1], NM_001256534.1:c.*249GT[1], NM_001287387.2:c.*249GT[1], NM_001287387.1:c.*249GT[1], NC_000022.10:g.19163392CA[1], NR_033687.2:n.1210GT[1]

Select item 14914236592.

rs1491423659 [Homo sapiens]

Variant type:: INS
Alleles:: ->GG,GGCACAGGGTTCACAGTAAG,TACAGG [Show Flanks]
Chromosome:: 22:19175878 (GRCh38)
22:19163392 (GRCh37)
Canonical SPDI:: NC_000022.11:19175878::GG,NC_000022.11:19175878::GGCACAGGGTTCACAGTAAG,NC_000022.11:19175878::TACAGG
Gene:: SLC25A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGCACAGGGTTCACAGTAAG=0./0 (ALFA)
GGCACAGGGTTCACAGTAAG=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.19175878_19175879insGG, NC_000022.11:g.19175878_19175879insGGCACAGGGTTCACAGTAAG, NC_000022.11:g.19175878_19175879insTACAGG, NW_003871096.1:g.29095_29096insGG, NW_003871096.1:g.29095_29096insGGCACAGGGTTCACAGTAAG, NW_003871096.1:g.29095_29096insTACAGG, NG_033863.1:g.7985_7986insCC, NG_033863.1:g.7985_7986insCTTACTGTGAACCCTGTGCC, NG_033863.1:g.7985_7986insCCTGTA, NM_005984.5:c.*251_*252insCC, NM_005984.5:c.*251_*252insCTTACTGTGAACCCTGTGCC, NM_005984.5:c.*251_*252insCCTGTA, NM_005984.4:c.*251_*252insCC, NM_005984.4:c.*251_*252insCTTACTGTGAACCCTGTGCC, NM_005984.4:c.*251_*252insCCTGTA, NM_005984.3:c.*251_*252insCC, NM_005984.3:c.*251_*252insCTTACTGTGAACCCTGTGCC, NM_005984.3:c.*251_*252insCCTGTA, NR_046298.3:n.1111_1112insCC, NR_046298.3:n.1111_1112insCTTACTGTGAACCCTGTGCC, NR_046298.3:n.1111_1112insCCTGTA, NR_046298.2:n.1238_1239insCC, NR_046298.2:n.1238_1239insCTTACTGTGAACCCTGTGCC, NR_046298.2:n.1238_1239insCCTGTA, NR_046298.1:n.1200_1201insCC, NR_046298.1:n.1200_1201insCTTACTGTGAACCCTGTGCC, NR_046298.1:n.1200_1201insCCTGTA, NM_001256534.2:c.*251_*252insCC, NM_001256534.2:c.*251_*252insCTTACTGTGAACCCTGTGCC, NM_001256534.2:c.*251_*252insCCTGTA, NM_001256534.1:c.*251_*252insCC, NM_001256534.1:c.*251_*252insCTTACTGTGAACCCTGTGCC, NM_001256534.1:c.*251_*252insCCTGTA, NM_001287387.2:c.*251_*252insCC, NM_001287387.2:c.*251_*252insCTTACTGTGAACCCTGTGCC, NM_001287387.2:c.*251_*252insCCTGTA, NM_001287387.1:c.*251_*252insCC, NM_001287387.1:c.*251_*252insCTTACTGTGAACCCTGTGCC, NM_001287387.1:c.*251_*252insCCTGTA, NC_000022.10:g.19163391_19163392insGG, NC_000022.10:g.19163391_19163392insGGCACAGGGTTCACAGTAAG, NC_000022.10:g.19163391_19163392insTACAGG, NR_033687.2:n.1212_1213insCC, NR_033687.2:n.1212_1213insCTTACTGTGAACCCTGTGCC, NR_033687.2:n.1212_1213insCCTGTA

Select item 14904988233.

rs1490498823 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 22:19179051 (GRCh38)
22:19166564 (GRCh37)
Canonical SPDI:: NC_000022.11:19179050:T:C,NC_000022.11:19179050:T:G
Gene:: SLC25A1 (Varview), CLTCL1 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.19179051T>C, NC_000022.11:g.19179051T>G, NW_003871096.1:g.32268T>C, NW_003871096.1:g.32268T>G, NG_033805.1:g.117666A>G, NG_033805.1:g.117666A>C, NG_033863.1:g.4813A>G, NG_033863.1:g.4813A>C, NC_000022.10:g.19166564T>C, NC_000022.10:g.19166564T>G

Select item 14904074504.

rs1490407450 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:19178611 (GRCh38)
22:19166124 (GRCh37)
Canonical SPDI:: NC_000022.11:19178610:C:T
Gene:: SLC25A1 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000065/9 (GnomAD)
T=0.000072/19 (TOPMED)
HGVS:: NC_000022.11:g.19178611C>T, NW_003871096.1:g.31828C>T, NG_033805.1:g.118106G>A, NG_033863.1:g.5253G>A, NM_005984.5:c.63G>A, NM_005984.4:c.63G>A, NM_005984.3:c.63G>A, NR_046298.3:n.126G>A, NR_046298.2:n.253G>A, NR_046298.1:n.215G>A, NC_000022.10:g.19166124C>T

Select item 14903815965.

rs1490381596 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:19178535 (GRCh38)
22:19166048 (GRCh37)
Canonical SPDI:: NC_000022.11:19178534:C:G
Gene:: SLC25A1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000022.11:g.19178535C>G, NW_003871096.1:g.31752C>G, NG_033805.1:g.118182G>C, NG_033863.1:g.5329G>C, NC_000022.10:g.19166048C>G

Select item 14901691416.

rs1490169141 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:19178622 (GRCh38)
22:19166135 (GRCh37)
Canonical SPDI:: NC_000022.11:19178621:C:T
Gene:: SLC25A1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.19178622C>T, NW_003871096.1:g.31839C>T, NG_033805.1:g.118095G>A, NG_033863.1:g.5242G>A, NM_005984.5:c.52G>A, NM_005984.4:c.52G>A, NM_005984.3:c.52G>A, NR_046298.3:n.115G>A, NR_046298.2:n.242G>A, NR_046298.1:n.204G>A, NC_000022.10:g.19166135C>T, NP_005975.1:p.Gly18Arg

Select item 14900816647.

rs1490081664 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 22:19177880 (GRCh38)
22:19165394 (GRCh37)
Canonical SPDI:: NC_000022.11:19177880:GGG:GGGG
Gene:: SLC25A1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0.000174/4 (ALFA)
G=0.000034/7 (GnomAD_exomes)
G=0.000049/13 (TOPMED)
G=0.000064/9 (GnomAD)
HGVS:: NC_000022.11:g.19177883dup, NW_003871096.1:g.31100dup, NG_033805.1:g.118836dup, NG_033863.1:g.5983dup, NC_000022.10:g.19165396dup

Select item 14894280908.

rs1489428090 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGGGTTCA>- [Show Flanks]
Chromosome:: 22:19176664 (GRCh38)
22:19164177 (GRCh37)
Canonical SPDI:: NC_000022.11:19176660:TCAGAGGGTTCA:TCA
Gene:: SLC25A1 (Varview)
Functional Consequence:: non_coding_transcript_variant,inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TCA=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.19176664_19176672del, NW_003871096.1:g.29881_29889del, NG_033863.1:g.7195_7203del, NM_005984.5:c.656_664del, NM_005984.4:c.656_664del, NM_005984.3:c.656_664del, NR_046298.3:n.580_588del, NR_046298.2:n.707_715del, NR_046298.1:n.669_677del, NM_001256534.2:c.677_685del, NM_001256534.1:c.677_685del, NM_001287387.2:c.347_355del, NM_001287387.1:c.347_355del, NC_000022.10:g.19164177_19164185del, NR_033687.2:n.681_689del, NP_005975.1:p.Asn219_Leu221del, NP_001243463.1:p.Asn226_Leu228del, NP_001274316.1:p.Asn116_Leu118del

Select item 14893804209.

rs1489380420 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:19177500 (GRCh38)
22:19165013 (GRCh37)
Canonical SPDI:: NC_000022.11:19177499:G:A
Gene:: SLC25A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.19177500G>A, NW_003871096.1:g.30717G>A, NG_033805.1:g.119217C>T, NG_033863.1:g.6364C>T, NC_000022.10:g.19165013G>A

Select item 148872595010.

rs1488725950 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:19179899 (GRCh38)
22:19167412 (GRCh37)
Canonical SPDI:: NC_000022.11:19179898:G:C
Gene:: SLC25A1 (Varview), CLTCL1 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.19179899G>C, NW_003871096.1:g.33116G>C, NG_033805.1:g.116818C>G, NM_007098.4:c.*91C>G, NM_007098.3:c.*91C>G, NM_001835.4:c.*91C>G, NM_001835.3:c.*91C>G, NG_033863.1:g.3965C>G, NC_000022.10:g.19167412G>C, XM_017028953.3:c.*91C>G, XM_017028953.2:c.*91C>G, XM_017028953.1:c.*91C>G, XM_017028954.3:c.*91C>G, XM_017028954.2:c.*91C>G, XM_017028954.1:c.*91C>G, XM_017028955.3:c.*91C>G, XM_017028955.2:c.*91C>G, XM_017028955.1:c.*91C>G, XM_017028956.3:c.*91C>G, XM_017028956.2:c.*91C>G, XM_017028956.1:c.*91C>G, XM_011530401.2:c.*91C>G, XM_011530401.1:c.*91C>G, XM_047441514.1:c.*91C>G, XM_047441511.1:c.*91C>G, XM_047441512.1:c.*91C>G, XM_047441513.1:c.*91C>G, XM_047441515.1:c.*91C>G, XM_047441516.1:c.*91C>G, XM_047441517.1:c.*91C>G, XM_047441518.1:c.*91C>G

Select item 148811349211.

rs1488113492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:19179128 (GRCh38)
22:19166641 (GRCh37)
Canonical SPDI:: NC_000022.11:19179127:C:A
Gene:: SLC25A1 (Varview), CLTCL1 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.19179128C>A, NW_003871096.1:g.32345C>A, NG_033805.1:g.117589G>T, NG_033863.1:g.4736G>T, NC_000022.10:g.19166641C>A

Select item 148795962212.

rs1487959622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:19177009 (GRCh38)
22:19164522 (GRCh37)
Canonical SPDI:: NC_000022.11:19177008:G:A
Gene:: SLC25A1 (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_000022.11:g.19177009G>A, NW_003871096.1:g.30226G>A, NG_033863.1:g.6855C>T, NC_000022.10:g.19164522G>A

Select item 148713755313.

rs1487137553 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:19176303 (GRCh38)
22:19163816 (GRCh37)
Canonical SPDI:: NC_000022.11:19176302:G:A
Gene:: SLC25A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.19176303G>A, NW_003871096.1:g.29520G>A, NG_033863.1:g.7561C>T, NC_000022.10:g.19163816G>A

Select item 148683044014.

rs1486830440 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 22:19175085 (GRCh38)
22:19162599 (GRCh37)
Canonical SPDI:: NC_000022.11:19175085:CCCCC:CCCCCC
Gene:: SLC25A1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: CCCCCC=0./0 (ALFA)
HGVS:: NC_000022.11:g.19175090dup, NW_003871096.1:g.28307dup, NG_033863.1:g.8778dup, NC_000022.10:g.19162603dup

Select item 148648850115.

rs1486488501 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:19175660 (GRCh38)
22:19163173 (GRCh37)
Canonical SPDI:: NC_000022.11:19175659:G:A
Gene:: SLC25A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.19175660G>A, NW_003871096.1:g.28877G>A, NG_033863.1:g.8204C>T, NM_005984.5:c.*470C>T, NM_005984.4:c.*470C>T, NM_005984.3:c.*470C>T, NR_046298.3:n.1330C>T, NR_046298.2:n.1457C>T, NR_046298.1:n.1419C>T, NM_001256534.2:c.*470C>T, NM_001256534.1:c.*470C>T, NM_001287387.2:c.*470C>T, NM_001287387.1:c.*470C>T, NC_000022.10:g.19163173G>A, NR_033687.2:n.1431C>T

Select item 148616157116.

rs1486161571 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 22:19175967 (GRCh38)
22:19163480 (GRCh37)
Canonical SPDI:: NC_000022.11:19175966:A:
Gene:: SLC25A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/1 (GnomAD)
HGVS:: NC_000022.11:g.19175967del, NW_003871096.1:g.29184del, NG_033863.1:g.7897del, NM_005984.5:c.*163del, NM_005984.4:c.*163del, NM_005984.3:c.*163del, NR_046298.3:n.1023del, NR_046298.2:n.1150del, NR_046298.1:n.1112del, NM_001256534.2:c.*163del, NM_001256534.1:c.*163del, NM_001287387.2:c.*163del, NM_001287387.1:c.*163del, NC_000022.10:g.19163480del, NR_033687.2:n.1124del

Select item 148570642717.

rs1485706427 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:19175549 (GRCh38)
22:19163062 (GRCh37)
Canonical SPDI:: NC_000022.11:19175548:G:A
Gene:: SLC25A1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000068/18 (TOPMED)
HGVS:: NC_000022.11:g.19175549G>A, NW_003871096.1:g.28766G>A, NG_033863.1:g.8315C>T, NC_000022.10:g.19163062G>A

Select item 148485294818.

rs1484852948 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:19178676 (GRCh38)
22:19166189 (GRCh37)
Canonical SPDI:: NC_000022.11:19178675:C:A,NC_000022.11:19178675:C:T
Gene:: SLC25A1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000022.11:g.19178676C>A, NC_000022.11:g.19178676C>T, NW_003871096.1:g.31893C>A, NW_003871096.1:g.31893C>T, NG_033805.1:g.118041G>T, NG_033805.1:g.118041G>A, NG_033863.1:g.5188G>T, NG_033863.1:g.5188G>A, NM_005984.5:c.-3G>T, NM_005984.5:c.-3G>A, NM_005984.4:c.-3G>T, NM_005984.4:c.-3G>A, NM_005984.3:c.-3G>T, NM_005984.3:c.-3G>A, NR_046298.3:n.61G>T, NR_046298.3:n.61G>A, NR_046298.2:n.188G>T, NR_046298.2:n.188G>A, NR_046298.1:n.150G>T, NR_046298.1:n.150G>A, NC_000022.10:g.19166189C>A, NC_000022.10:g.19166189C>T

Select item 148431290719.

rs1484312907 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:19180089 (GRCh38)
22:19167602 (GRCh37)
Canonical SPDI:: NC_000022.11:19180088:C:T
Gene:: SLC25A1 (Varview), CLTCL1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000022.11:g.19180089C>T, NW_003871096.1:g.33306C>T, NG_033805.1:g.116628G>A, NG_033863.1:g.3775G>A, NC_000022.10:g.19167602C>T

Select item 148418750520.

rs1484187505 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:19177935 (GRCh38)
22:19165448 (GRCh37)
Canonical SPDI:: NC_000022.11:19177934:G:T
Gene:: SLC25A1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.19177935G>T, NW_003871096.1:g.31152G>T, NG_033805.1:g.118782C>A, NG_033863.1:g.5929C>A, NC_000022.10:g.19165448G>T

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