SNP Links for Gene (Select 85014) - SNP

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Select item 14900450541.

rs1490045054 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:136793407 (GRCh38)
9:139687859 (GRCh37)
Canonical SPDI:: NC_000009.12:136793406:C:A
Gene:: TMEM141 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000009.12:g.136793407C>A, NC_000009.11:g.139687859C>A

Select item 14878638092.

rs1487863809 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:136792545 (GRCh38)
9:139686997 (GRCh37)
Canonical SPDI:: NC_000009.12:136792544:A:G
Gene:: TMEM141 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.136792545A>G, NC_000009.11:g.139686997A>G

Select item 14873963813.

rs1487396381 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136792152 (GRCh38)
9:139686604 (GRCh37)
Canonical SPDI:: NC_000009.12:136792151:G:A
Gene:: TMEM141 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136792152G>A, NC_000009.11:g.139686604G>A

Select item 14867514914.

rs1486751491 [Homo sapiens]

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

Select item 14863318005.

rs1486331800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136792289 (GRCh38)
9:139686741 (GRCh37)
Canonical SPDI:: NC_000009.12:136792288:G:A
Gene:: TMEM141 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136792289G>A, NC_000009.11:g.139686741G>A, NM_032928.4:c.244G>A, NM_032928.3:c.244G>A, NP_116317.1:p.Glu82Lys

Select item 14858946436.

rs1485894643 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136793306 (GRCh38)
9:139687758 (GRCh37)
Canonical SPDI:: NC_000009.12:136793305:G:A
Gene:: TMEM141 (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_000009.12:g.136793306G>A, NC_000009.11:g.139687758G>A, NM_032928.4:c.*474G>A, NM_032928.3:c.*474G>A

Select item 14857544697.

rs1485754469 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136791950 (GRCh38)
9:139686402 (GRCh37)
Canonical SPDI:: NC_000009.12:136791949:C:T
Gene:: TMEM141 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136791950C>T, NC_000009.11:g.139686402C>T, NM_032928.4:c.125C>T, NM_032928.3:c.125C>T, NP_116317.1:p.Thr42Ile

Select item 14857247568.

rs1485724756 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136791233 (GRCh38)
9:139685685 (GRCh37)
Canonical SPDI:: NC_000009.12:136791232:C:T
Gene:: TMEM141 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136791233C>T, NC_000009.11:g.139685685C>T

Select item 14854909519.

rs1485490951 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C,CC [Show Flanks]
Chromosome:: 9:136791195 (GRCh38)
9:139685648 (GRCh37)
Canonical SPDI:: NC_000009.12:136791195:CCCC:CCCCC,NC_000009.12:136791195:CCCC:CCCCCC
Gene:: TMEM141 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0.000432/8 (ALFA)
CC=0.000004/1 (TOPMED)
C=0.000608/85 (GnomAD)
C=0.001786/8 (Estonian)
HGVS:: NC_000009.12:g.136791199dup, NC_000009.12:g.136791198_136791199dup, NC_000009.11:g.139685651dup, NC_000009.11:g.139685650_139685651dup

Select item 148543057210.

rs1485430572 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:136792362 (GRCh38)
9:139686814 (GRCh37)
Canonical SPDI:: NC_000009.12:136792361:A:G
Gene:: TMEM141 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000009.12:g.136792362A>G, NC_000009.11:g.139686814A>G

Select item 148474709111.

rs1484747091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:136791507 (GRCh38)
9:139685959 (GRCh37)
Canonical SPDI:: NC_000009.12:136791506:C:A,NC_000009.12:136791506:C:T
Gene:: TMEM141 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.136791507C>A, NC_000009.12:g.136791507C>T, NC_000009.11:g.139685959C>A, NC_000009.11:g.139685959C>T

Select item 148472085012.

rs1484720850 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 9:136789656 (GRCh38)
9:139684108 (GRCh37)
Canonical SPDI:: NC_000009.12:136789655:TT:T
Gene:: TMEM141 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.00005/7 (GnomAD)
-=0.000144/38 (TOPMED)
-=0.000849/14 (TOMMO)
-=0.00463/1 (Vietnamese)
HGVS:: NC_000009.12:g.136789657del, NC_000009.11:g.139684109del

Select item 148306300513.

rs1483063005 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:136791398 (GRCh38)
9:139685850 (GRCh37)
Canonical SPDI:: NC_000009.12:136791397:G:C
Gene:: TMEM141 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000009.12:g.136791398G>C, NC_000009.11:g.139685850G>C, NM_032928.4:c.28G>C, NM_032928.3:c.28G>C, NP_116317.1:p.Asp10His

Select item 148242458914.

rs1482424589 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:136792334 (GRCh38)
9:139686786 (GRCh37)
Canonical SPDI:: NC_000009.12:136792333:C:A,NC_000009.12:136792333:C:T
Gene:: TMEM141 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.136792334C>A, NC_000009.12:g.136792334C>T, NC_000009.11:g.139686786C>A, NC_000009.11:g.139686786C>T, NM_032928.4:c.289C>A, NM_032928.4:c.289C>T, NM_032928.3:c.289C>A, NM_032928.3:c.289C>T, NP_116317.1:p.Gln97Lys, NP_116317.1:p.Gln97Ter

Select item 148215399815.

rs1482153998 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136791448 (GRCh38)
9:139685900 (GRCh37)
Canonical SPDI:: NC_000009.12:136791447:G:A
Gene:: TMEM141 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136791448G>A, NC_000009.11:g.139685900G>A

Select item 148085648616.

rs1480856486 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 9:136790941 (GRCh38)
9:139685393 (GRCh37)
Canonical SPDI:: NC_000009.12:136790940:C:A,NC_000009.12:136790940:C:G,NC_000009.12:136790940:C:T
Gene:: TMEM141 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.136790941C>A, NC_000009.12:g.136790941C>G, NC_000009.12:g.136790941C>T, NC_000009.11:g.139685393C>A, NC_000009.11:g.139685393C>G, NC_000009.11:g.139685393C>T

Select item 148080494517.

rs1480804945 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:136790136 (GRCh38)
9:139684588 (GRCh37)
Canonical SPDI:: NC_000009.12:136790135:C:G
Gene:: TMEM141 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000009.12:g.136790136C>G, NC_000009.11:g.139684588C>G

Select item 148040681118.

rs1480406811 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136793109 (GRCh38)
9:139687561 (GRCh37)
Canonical SPDI:: NC_000009.12:136793108:G:A
Gene:: TMEM141 (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=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.136793109G>A, NC_000009.11:g.139687561G>A, NM_032928.4:c.*277G>A, NM_032928.3:c.*277G>A

Select item 148001487419.

rs1480014874 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:136792037 (GRCh38)
9:139686489 (GRCh37)
Canonical SPDI:: NC_000009.12:136792036:A:G
Gene:: TMEM141 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.136792037A>G, NC_000009.11:g.139686489A>G

Select item 147981595120.

rs1479815951 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:136793472 (GRCh38)
9:139687924 (GRCh37)
Canonical SPDI:: NC_000009.12:136793471:G:T
Gene:: TMEM141 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_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_000009.12:g.136793472G>T, NC_000009.11:g.139687924G>T

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