SNP Links for Gene (Select 293) - SNP

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Select item 14913459531.

rs1491345953 has merged into rs55819123 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG [Show Flanks]
Chromosome:: Y:1392777 (GRCh38)
Y:1461670 (GRCh37)
Canonical SPDI:: NC_000024.10:1392769:GGGGGGGGG:GGGGGGG,NC_000024.10:1392769:GGGGGGGGG:GGGGGGGG,NC_000024.10:1392769:GGGGGGGGG:GGGGGGGGGG,NC_000024.10:1392769:GGGGGGGGG:GGGGGGGGGGG,NC_000024.10:1392769:GGGGGGGGG:GGGGGGGGGGGG
Gene:: SLC25A6 (Varview), LOC124900597 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGG=0./0 (ALFA)
G=0.475/19 (GENOME_DK)
-=0.4991/1884 (1000Genomes)
HGVS:: NC_000024.10:g.1392777_1392778del, NC_000024.10:g.1392778del, NC_000024.10:g.1392778dup, NC_000024.10:g.1392777_1392778dup, NC_000024.10:g.1392776_1392778dup, NC_000024.9:g.1461670_1461671del, NC_000024.9:g.1461671del, NC_000024.9:g.1461671dup, NC_000024.9:g.1461670_1461671dup, NC_000024.9:g.1461669_1461671dup, NG_013263.1:g.4376_4377del, NG_013263.1:g.4377del, NG_013263.1:g.4377dup, NG_013263.1:g.4376_4377dup, NG_013263.1:g.4375_4377dup, NC_000023.11:g.1392777_1392778del, NC_000023.11:g.1392778del, NC_000023.11:g.1392778dup, NC_000023.11:g.1392777_1392778dup, NC_000023.11:g.1392776_1392778dup, NC_000023.10:g.1511670_1511671del, NC_000023.10:g.1511671del, NC_000023.10:g.1511671dup, NC_000023.10:g.1511670_1511671dup, NC_000023.10:g.1511669_1511671dup

Select item 14913269002.

rs1491326900 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: Y:1392770 (GRCh38)
Y:1461664 (GRCh37)
Canonical SPDI:: NC_000024.10:1392770::T
Gene:: SLC25A6 (Varview), LOC124900597 (Varview)
Functional Consequence:: 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_000024.10:g.1392770_1392771insT, NC_000024.9:g.1461663_1461664insT, NG_013263.1:g.4376_4377insA, NC_000023.11:g.1392770_1392771insT, NC_000023.10:g.1511663_1511664insT

Select item 14908539573.

rs1490853957 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: Y:1390579 (GRCh38)
Y:1459472 (GRCh37)
Canonical SPDI:: NC_000024.10:1390578:A:C,NC_000024.10:1390578:A:G
Gene:: SLC25A6 (Varview), LOC124900597 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00002/2 (GnomAD)
HGVS:: NC_000024.10:g.1390579A>C, NC_000024.10:g.1390579A>G, NC_000024.9:g.1459472A>C, NC_000024.9:g.1459472A>G, NG_013263.1:g.6568T>G, NG_013263.1:g.6568T>C, NC_000023.11:g.1390579A>C, NC_000023.11:g.1390579A>G, NC_000023.10:g.1509472A>C, NC_000023.10:g.1509472A>G

Select item 14907708284.

rs1490770828 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: Y:1393218 (GRCh38)
Y:1462111 (GRCh37)
Canonical SPDI:: NC_000024.10:1393217:T:C
Gene:: SLC25A6 (Varview), LOC124900597 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000024.10:g.1393218T>C, NC_000024.9:g.1462111T>C, NG_013263.1:g.3929A>G, NC_000023.11:g.1393218T>C, NC_000023.10:g.1512111T>C

Select item 14906489205.

rs1490648920 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: Y:1385835 (GRCh38)
Y:1454728 (GRCh37)
Canonical SPDI:: NC_000024.10:1385834:T:C
Gene:: SLC25A6 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000024.10:g.1385835T>C, NC_000024.9:g.1454728T>C, NG_013263.1:g.11312A>G, NC_000023.11:g.1385835T>C, NC_000023.10:g.1504728T>C

Select item 14906296686.

rs1490629668 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: Y:1390429 (GRCh38)
Y:1459322 (GRCh37)
Canonical SPDI:: NC_000024.10:1390428:T:C
Gene:: SLC25A6 (Varview), LOC124900597 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000064/17 (TOPMED)
C=0.000079/11 (GnomAD)
HGVS:: NC_000024.10:g.1390429T>C, NC_000024.9:g.1459322T>C, NG_013263.1:g.6718A>G, NC_000023.11:g.1390429T>C, NC_000023.10:g.1509322T>C

Select item 14905181697.

rs1490518169 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: Y:1389040 (GRCh38)
Y:1457933 (GRCh37)
Canonical SPDI:: NC_000024.10:1389039:A:G,NC_000024.10:1389039:A:T
Gene:: SLC25A6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00061/10 (ALFA)
G=0.00131/22 (TOMMO)
HGVS:: NC_000024.10:g.1389040A>G, NC_000024.10:g.1389040A>T, NC_000024.9:g.1457933A>G, NC_000024.9:g.1457933A>T, NG_013263.1:g.8107T>C, NG_013263.1:g.8107T>A, NC_000023.11:g.1389040A>G, NC_000023.11:g.1389040A>T, NC_000023.10:g.1507933A>G, NC_000023.10:g.1507933A>T

Select item 14901379588.

rs1490137958 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: Y:1391131 (GRCh38)
Y:1460024 (GRCh37)
Canonical SPDI:: NC_000024.10:1391130:G:C
Gene:: SLC25A6 (Varview), LOC124900597 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.00001/1 (GnomAD)
C=0.00004/1 (TOMMO)
HGVS:: NC_000024.10:g.1391131G>C, NC_000024.9:g.1460024G>C, NG_013263.1:g.6016C>G, NC_000023.11:g.1391131G>C, NC_000023.10:g.1510024G>C

Select item 14900709929.

rs1490070992 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:1390215 (GRCh38)
Y:1459108 (GRCh37)
Canonical SPDI:: NC_000024.10:1390214:G:A
Gene:: SLC25A6 (Varview), LOC124900597 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000024.10:g.1390215G>A, NC_000024.9:g.1459108G>A, NG_013263.1:g.6932C>T, NC_000023.11:g.1390215G>A, NC_000023.10:g.1509108G>A

Select item 149004002810.

rs1490040028 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: Y:1390826 (GRCh38)
Y:1459720 (GRCh37)
Canonical SPDI:: NC_000024.10:1390826:A:AA
Gene:: SLC25A6 (Varview), LOC124900597 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000024.10:g.1390827dup, NC_000024.9:g.1459720dup, NG_013263.1:g.6320dup, NC_000023.11:g.1390827dup, NC_000023.10:g.1509720dup

Select item 148990580511.

rs1489905805 has merged into rs760342805 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: Y:1390589 (GRCh38)
Y:1459482 (GRCh37)
Canonical SPDI:: NC_000024.10:1390577:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000024.10:1390577:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000024.10:1390577:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000024.10:1390577:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000024.10:1390577:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000024.10:1390577:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000024.10:1390577:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000024.10:1390577:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: SLC25A6 (Varview), LOC124900597 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.125/5 (GENOME_DK)
-=0.157351/594 (1000Genomes)
HGVS:: NC_000024.10:g.1390589_1390592del, NC_000024.10:g.1390590_1390592del, NC_000024.10:g.1390591_1390592del, NC_000024.10:g.1390592del, NC_000024.10:g.1390592dup, NC_000024.10:g.1390591_1390592dup, NC_000024.10:g.1390590_1390592dup, NC_000024.10:g.1390589_1390592dup, NC_000024.9:g.1459482_1459485del, NC_000024.9:g.1459483_1459485del, NC_000024.9:g.1459484_1459485del, NC_000024.9:g.1459485del, NC_000024.9:g.1459485dup, NC_000024.9:g.1459484_1459485dup, NC_000024.9:g.1459483_1459485dup, NC_000024.9:g.1459482_1459485dup, NG_013263.1:g.6566_6569del, NG_013263.1:g.6567_6569del, NG_013263.1:g.6568_6569del, NG_013263.1:g.6569del, NG_013263.1:g.6569dup, NG_013263.1:g.6568_6569dup, NG_013263.1:g.6567_6569dup, NG_013263.1:g.6566_6569dup, NC_000023.11:g.1390589_1390592del, NC_000023.11:g.1390590_1390592del, NC_000023.11:g.1390591_1390592del, NC_000023.11:g.1390592del, NC_000023.11:g.1390592dup, NC_000023.11:g.1390591_1390592dup, NC_000023.11:g.1390590_1390592dup, NC_000023.11:g.1390589_1390592dup, NC_000023.10:g.1509482_1509485del, NC_000023.10:g.1509483_1509485del, NC_000023.10:g.1509484_1509485del, NC_000023.10:g.1509485del, NC_000023.10:g.1509485dup, NC_000023.10:g.1509484_1509485dup, NC_000023.10:g.1509483_1509485dup, NC_000023.10:g.1509482_1509485dup

Select item 148987531512.

rs1489875315 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: Y:1391054 (GRCh38)
Y:1459947 (GRCh37)
Canonical SPDI:: NC_000024.10:1391053:C:A
Gene:: SLC25A6 (Varview), LOC124900597 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000024.10:g.1391054C>A, NC_000024.9:g.1459947C>A, NG_013263.1:g.6093G>T, NC_000023.11:g.1391054C>A, NC_000023.10:g.1509947C>A

Select item 148983342313.

rs1489833423 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: Y:1386091 (GRCh38)
Y:1454984 (GRCh37)
Canonical SPDI:: NC_000024.10:1386090:G:A
Gene:: SLC25A6 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_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_000024.10:g.1386091G>A, NC_000024.9:g.1454984G>A, NG_013263.1:g.11056C>T, NC_000023.11:g.1386091G>A, NC_000023.10:g.1504984G>A

Select item 148977729114.

rs1489777291 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: Y:1386169 (GRCh38)
Y:1455062 (GRCh37)
Canonical SPDI:: NC_000024.10:1386168:TTT:TT
Gene:: SLC25A6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000024.10:g.1386171del, NC_000024.9:g.1455064del, NG_013263.1:g.10978del, NM_001636.4:c.*433del, NM_001636.3:c.*433del, NC_000023.11:g.1386171del, NC_000023.10:g.1505064del

Select item 148975952015.

rs1489759520 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: Y:1388004 (GRCh38)
Y:1456898 (GRCh37)
Canonical SPDI:: NC_000024.10:1388004:A:AA
Gene:: SLC25A6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000024.10:g.1388005dup, NC_000024.9:g.1456898dup, NG_013263.1:g.9142dup, NC_000023.11:g.1388005dup, NC_000023.10:g.1506898dup

Select item 148950560816.

rs1489505608 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: Y:1391725 (GRCh38)
Y:1460618 (GRCh37)
Canonical SPDI:: NC_000024.10:1391724:T:C,NC_000024.10:1391724:T:G
Gene:: SLC25A6 (Varview), LOC124900597 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000142/2 (TOMMO)
HGVS:: NC_000024.10:g.1391725T>C, NC_000024.10:g.1391725T>G, NC_000024.9:g.1460618T>C, NC_000024.9:g.1460618T>G, NG_013263.1:g.5422A>G, NG_013263.1:g.5422A>C, NC_000023.11:g.1391725T>C, NC_000023.11:g.1391725T>G, NC_000023.10:g.1510618T>C, NC_000023.10:g.1510618T>G

Select item 148945496417.

rs1489454964 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: Y:1392877 (GRCh38)
Y:1461770 (GRCh37)
Canonical SPDI:: NC_000024.10:1392876:C:T
Gene:: SLC25A6 (Varview), LOC124900597 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000024.10:g.1392877C>T, NC_000024.9:g.1461770C>T, NG_013263.1:g.4270G>A, NC_000023.11:g.1392877C>T, NC_000023.10:g.1511770C>T

Select item 148931703718.

rs1489317037 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: Y:1386179 (GRCh38)
Y:1455072 (GRCh37)
Canonical SPDI:: NC_000024.10:1386178:T:C
Gene:: SLC25A6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000024.10:g.1386179T>C, NC_000024.9:g.1455072T>C, NG_013263.1:g.10968A>G, NM_001636.4:c.*423A>G, NM_001636.3:c.*423A>G, NC_000023.11:g.1386179T>C, NC_000023.10:g.1505072T>C

Select item 148906593219.

rs1489065932 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: Y:1393036 (GRCh38)
Y:1461929 (GRCh37)
Canonical SPDI:: NC_000024.10:1393035:C:A,NC_000024.10:1393035:C:G,NC_000024.10:1393035:C:T
Gene:: SLC25A6 (Varview), LOC124900597 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000024.10:g.1393036C>A, NC_000024.10:g.1393036C>G, NC_000024.10:g.1393036C>T, NC_000024.9:g.1461929C>A, NC_000024.9:g.1461929C>G, NC_000024.9:g.1461929C>T, NG_013263.1:g.4111G>T, NG_013263.1:g.4111G>C, NG_013263.1:g.4111G>A, NC_000023.11:g.1393036C>A, NC_000023.11:g.1393036C>G, NC_000023.11:g.1393036C>T, NC_000023.10:g.1511929C>A, NC_000023.10:g.1511929C>G, NC_000023.10:g.1511929C>T

Select item 148902644720.

rs1489026447 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: Y:1389007 (GRCh38)
Y:1457900 (GRCh37)
Canonical SPDI:: NC_000024.10:1389006:C:G
Gene:: SLC25A6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000024.10:g.1389007C>G, NC_000024.9:g.1457900C>G, NG_013263.1:g.8140G>C, NC_000023.11:g.1389007C>G, NC_000023.10:g.1507900C>G

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