SNP Links for Gene (Select 284422) - SNP

Links from Gene

Items: 1 to 20 of 2294

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Select item 14905098491.

rs1490509849 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:3478670 (GRCh38)
19:3478668 (GRCh37)
Canonical SPDI:: NC_000019.10:3478669:C:G
Gene:: SMIM24 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.3478670C>G, NC_000019.9:g.3478668C>G

Select item 14904734392.

rs1490473439 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGG>- [Show Flanks]
Chromosome:: 19:3476900 (GRCh38)
19:3476898 (GRCh37)
Canonical SPDI:: NC_000019.10:3476888:TGGGTGGGTGGGTGG:TGGGTGGGTGG
Gene:: SMIM24 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGGGTGGGTGG=0./0 (ALFA)
-=0.00006/3 (GnomAD)
HGVS:: NC_000019.10:g.3476892GTGG[2], NC_000019.9:g.3476890GTGG[2]

Select item 14900915803.

rs1490091580 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:3479033 (GRCh38)
19:3479031 (GRCh37)
Canonical SPDI:: NC_000019.10:3479032:C:T
Gene:: SMIM24 (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_000019.10:g.3479033C>T, NC_000019.9:g.3479031C>T

Select item 14899426964.

rs1489942696 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:3479400 (GRCh38)
19:3479398 (GRCh37)
Canonical SPDI:: NC_000019.10:3479399:A:T
Gene:: SMIM24 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.3479400A>T, NC_000019.9:g.3479398A>T

Select item 14896510675.

rs1489651067 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:3479549 (GRCh38)
19:3479547 (GRCh37)
Canonical SPDI:: NC_000019.10:3479548:A:G
Gene:: SMIM24 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.002462/11 (ALFA)
G=0.000158/21 (GnomAD)
G=0.001036/17 (TOMMO)
G=0.001093/7 (1000Genomes)
G=0.002397/7 (KOREAN)
HGVS:: NC_000019.10:g.3479549A>G, NC_000019.9:g.3479547A>G

Select item 14894486116.

rs1489448611 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:3479914 (GRCh38)
19:3479912 (GRCh37)
Canonical SPDI:: NC_000019.10:3479913:G:T
Gene:: SMIM24 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000031/4 (GnomAD)
HGVS:: NC_000019.10:g.3479914G>T, NC_000019.9:g.3479912G>T

Select item 14887250827.

rs1488725082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:3479703 (GRCh38)
19:3479701 (GRCh37)
Canonical SPDI:: NC_000019.10:3479702:G:A
Gene:: SMIM24 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.3479703G>A, NC_000019.9:g.3479701G>A

Select item 14887246398.

rs1488724639 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:3478925 (GRCh38)
19:3478923 (GRCh37)
Canonical SPDI:: NC_000019.10:3478924:C:A,NC_000019.10:3478924:C:T
Gene:: SMIM24 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.3478925C>A, NC_000019.10:g.3478925C>T, NC_000019.9:g.3478923C>A, NC_000019.9:g.3478923C>T, NM_001136503.2:c.72G>T, NM_001136503.2:c.72G>A, NM_001136503.1:c.72G>T, NM_001136503.1:c.72G>A

Select item 14882567099.

rs1488256709 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:3474541 (GRCh38)
19:3474539 (GRCh37)
Canonical SPDI:: NC_000019.10:3474540:G:A
Gene:: SMIM24 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.3474541G>A, NC_000019.9:g.3474539G>A, NM_001136503.2:c.*302C>T, NM_001136503.1:c.*302C>T

Select item 148786722010.

rs1487867220 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:3478251 (GRCh38)
19:3478249 (GRCh37)
Canonical SPDI:: NC_000019.10:3478250:C:T
Gene:: SMIM24 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.3478251C>T, NC_000019.9:g.3478249C>T

Select item 148733644911.

rs1487336449 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:3474403 (GRCh38)
19:3474401 (GRCh37)
Canonical SPDI:: NC_000019.10:3474402:C:T
Gene:: SMIM24 (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=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.3474403C>T, NC_000019.9:g.3474401C>T, NM_001136503.2:c.*440G>A

Select item 148726121512.

rs1487261215 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:3480969 (GRCh38)
19:3480967 (GRCh37)
Canonical SPDI:: NC_000019.10:3480968:G:A
Gene:: SMIM24 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.3480969G>A, NC_000019.9:g.3480967G>A

Select item 148719626213.

rs1487196262 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:3480617 (GRCh38)
19:3480615 (GRCh37)
Canonical SPDI:: NC_000019.10:3480616:C:A
Gene:: SMIM24 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.3480617C>A, NC_000019.9:g.3480615C>A

Select item 148716163514.

rs1487161635 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:3481475 (GRCh38)
19:3481473 (GRCh37)
Canonical SPDI:: NC_000019.10:3481474:G:T
Gene:: SMIM24 (Varview), LOC105372246 (Varview)
Functional Consequence:: 2KB_upstream_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.3481475G>T, NC_000019.9:g.3481473G>T

Select item 148687310415.

rs1486873104 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:3478951 (GRCh38)
19:3478949 (GRCh37)
Canonical SPDI:: NC_000019.10:3478950:C:A,NC_000019.10:3478950:C:T
Gene:: SMIM24 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.3478951C>A, NC_000019.10:g.3478951C>T, NC_000019.9:g.3478949C>A, NC_000019.9:g.3478949C>T

Select item 148667475016.

rs1486674750 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:3475384 (GRCh38)
19:3475382 (GRCh37)
Canonical SPDI:: NC_000019.10:3475383:G:C
Gene:: SMIM24 (Varview)
Functional Consequence:: intron_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.3475384G>C, NC_000019.9:g.3475382G>C

Select item 148638495617.

rs1486384956 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:3477788 (GRCh38)
19:3477786 (GRCh37)
Canonical SPDI:: NC_000019.10:3477787:G:A
Gene:: SMIM24 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.3477788G>A, NC_000019.9:g.3477786G>A

Select item 148563086518.

rs1485630865 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:3482078 (GRCh38)
19:3482076 (GRCh37)
Canonical SPDI:: NC_000019.10:3482077:T:C
Gene:: SMIM24 (Varview), LOC105372246 (Varview), SMIM44 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.3482078T>C, NC_000019.9:g.3482076T>C

Select item 148552465419.

rs1485524654 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:3481392 (GRCh38)
19:3481390 (GRCh37)
Canonical SPDI:: NC_000019.10:3481391:C:G
Gene:: SMIM24 (Varview), LOC105372246 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000022/3 (GnomAD)
HGVS:: NC_000019.10:g.3481392C>G, NC_000019.9:g.3481390C>G

Select item 148524181220.

rs1485241812 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:3479676 (GRCh38)
19:3479674 (GRCh37)
Canonical SPDI:: NC_000019.10:3479675:G:A
Gene:: SMIM24 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000045/5 (GnomAD)
A=0.000546/1 (Korea1K)
A=0.000624/10 (TOMMO)
HGVS:: NC_000019.10:g.3479676G>A, NC_000019.9:g.3479674G>A

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