SNP Links for Gene (Select 54867) - SNP

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Select item 14913772841.

rs1491377284 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:27038460 (GRCh38)
2:27261329 (GRCh37)
Canonical SPDI:: NC_000002.12:27038460::G
Gene:: TMEM214 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27038460_27038461insG, NC_000002.11:g.27261328_27261329insG

Select item 14912655372.

rs1491265537 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:27038460 (GRCh38)
2:27261328 (GRCh37)
Canonical SPDI:: NC_000002.12:27038459:TA:
Gene:: TMEM214 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.27038460_27038461del, NC_000002.11:g.27261328_27261329del

Select item 14910581043.

rs1491058104 has merged into rs67511175 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:27034612 (GRCh38)
2:27257480 (GRCh37)
Canonical SPDI:: NC_000002.12:27034601:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:27034601:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:27034601:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:27034601:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:27034601:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:27034601:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:27034601:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:27034601:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:27034601:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:27034601:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27034601:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27034601:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27034601:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27034601:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27034601:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:27034601:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TMEM214 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.18271/915 (1000Genomes)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000002.12:g.27034612_27034620del, NC_000002.12:g.27034614_27034620del, NC_000002.12:g.27034615_27034620del, NC_000002.12:g.27034616_27034620del, NC_000002.12:g.27034617_27034620del, NC_000002.12:g.27034618_27034620del, NC_000002.12:g.27034619_27034620del, NC_000002.12:g.27034620del, NC_000002.12:g.27034620dup, NC_000002.12:g.27034619_27034620dup, NC_000002.12:g.27034618_27034620dup, NC_000002.12:g.27034617_27034620dup, NC_000002.12:g.27034616_27034620dup, NC_000002.12:g.27034615_27034620dup, NC_000002.12:g.27034614_27034620dup, NC_000002.12:g.27034609_27034620dup, NC_000002.11:g.27257480_27257488del, NC_000002.11:g.27257482_27257488del, NC_000002.11:g.27257483_27257488del, NC_000002.11:g.27257484_27257488del, NC_000002.11:g.27257485_27257488del, NC_000002.11:g.27257486_27257488del, NC_000002.11:g.27257487_27257488del, NC_000002.11:g.27257488del, NC_000002.11:g.27257488dup, NC_000002.11:g.27257487_27257488dup, NC_000002.11:g.27257486_27257488dup, NC_000002.11:g.27257485_27257488dup, NC_000002.11:g.27257484_27257488dup, NC_000002.11:g.27257483_27257488dup, NC_000002.11:g.27257482_27257488dup, NC_000002.11:g.27257477_27257488dup

Select item 14909677544.

rs1490967754 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27040106 (GRCh38)
2:27262974 (GRCh37)
Canonical SPDI:: NC_000002.12:27040105:G:A
Gene:: TMEM214 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.27040106G>A, NC_000002.11:g.27262974G>A, NG_082494.1:g.1397G>A, NM_017727.5:c.1699G>A, NM_017727.4:c.1699G>A, XM_005264381.4:c.1891G>A, XM_005264381.3:c.1891G>A, XM_005264381.2:c.1891G>A, XM_005264381.1:c.1891G>A, XM_005264382.4:c.1777G>A, XM_005264382.3:c.1777G>A, XM_005264382.2:c.1777G>A, XM_005264382.1:c.1777G>A, XM_005264383.3:c.688G>A, XM_005264383.2:c.688G>A, XM_005264383.1:c.688G>A, NM_001083590.2:c.1564G>A, NM_001083590.1:c.1564G>A, XM_047444826.1:c.1794G>A, NP_060197.4:p.Ala567Thr, XP_005264438.1:p.Ala631Thr, XP_005264439.1:p.Ala593Thr, XP_005264440.1:p.Ala230Thr, NP_001077059.1:p.Ala522Thr

Select item 14909012965.

rs1490901296 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:27040306 (GRCh38)
2:27263174 (GRCh37)
Canonical SPDI:: NC_000002.12:27040305:CCC:CC
Gene:: TMEM214 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.27040308del, NC_000002.11:g.27263176del

Select item 14892735096.

rs1489273509 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:27033195 (GRCh38)
2:27256063 (GRCh37)
Canonical SPDI:: NC_000002.12:27033194:C:A
Gene:: TMEM214 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000002.12:g.27033195C>A, NC_000002.11:g.27256063C>A

Select item 14891948147.

rs1489194814 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:27033165 (GRCh38)
2:27256033 (GRCh37)
Canonical SPDI:: NC_000002.12:27033164:C:A,NC_000002.12:27033164:C:T
Gene:: TMEM214 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27033165C>A, NC_000002.12:g.27033165C>T, NC_000002.11:g.27256033C>A, NC_000002.11:g.27256033C>T, NM_017727.5:c.150C>A, NM_017727.5:c.150C>T, NM_017727.4:c.150C>A, NM_017727.4:c.150C>T, XM_005264381.4:c.150C>A, XM_005264381.4:c.150C>T, XM_005264381.3:c.150C>A, XM_005264381.3:c.150C>T, XM_005264381.2:c.150C>A, XM_005264381.2:c.150C>T, XM_005264381.1:c.150C>A, XM_005264381.1:c.150C>T, XM_005264382.4:c.150C>A, XM_005264382.4:c.150C>T, XM_005264382.3:c.150C>A, XM_005264382.3:c.150C>T, XM_005264382.2:c.150C>A, XM_005264382.2:c.150C>T, XM_005264382.1:c.150C>A, XM_005264382.1:c.150C>T, NM_001083590.2:c.150C>A, NM_001083590.2:c.150C>T, NM_001083590.1:c.150C>A, NM_001083590.1:c.150C>T, XM_047444826.1:c.150C>A, XM_047444826.1:c.150C>T, XM_047444827.1:c.150C>A, XM_047444827.1:c.150C>T

Select item 14891641138.

rs1489164113 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGC>- [Show Flanks]
Chromosome:: 2:27035990 (GRCh38)
2:27258858 (GRCh37)
Canonical SPDI:: NC_000002.12:27035988:CCGC:C
Gene:: TMEM214 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27035990_27035992del, NC_000002.11:g.27258858_27258860del, NM_017727.5:c.658_660del, NM_017727.4:c.658_660del, XM_005264381.4:c.658_660del, XM_005264381.3:c.658_660del, XM_005264381.2:c.658_660del, XM_005264381.1:c.658_660del, XM_005264382.4:c.658_660del, XM_005264382.3:c.658_660del, XM_005264382.2:c.658_660del, XM_005264382.1:c.658_660del, NM_001083590.2:c.523_525del, NM_001083590.1:c.523_525del, XM_047444826.1:c.658_660del, XM_047444827.1:c.658_660del, NP_060197.4:p.Arg220del, XP_005264438.1:p.Arg220del, XP_005264439.1:p.Arg220del, NP_001077059.1:p.Arg175del, XP_047300782.1:p.Arg220del, XP_047300783.1:p.Arg220del

Select item 14888636689.

rs1488863668 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:27036593 (GRCh38)
2:27259461 (GRCh37)
Canonical SPDI:: NC_000002.12:27036592:G:T
Gene:: TMEM214 (Varview)
Functional Consequence:: upstream_transcript_variant,splice_donor_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27036593G>T, NC_000002.11:g.27259461G>T

Select item 148862302010.

rs1488623020 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27040404 (GRCh38)
2:27263272 (GRCh37)
Canonical SPDI:: NC_000002.12:27040403:C:T
Gene:: TMEM214 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.27040404C>T, NC_000002.11:g.27263272C>T, NM_017727.5:c.1851C>T, NM_017727.4:c.1851C>T, XM_005264381.4:c.2043C>T, XM_005264381.3:c.2043C>T, XM_005264381.2:c.2043C>T, XM_005264381.1:c.2043C>T, XM_005264382.4:c.1929C>T, XM_005264382.3:c.1929C>T, XM_005264382.2:c.1929C>T, XM_005264382.1:c.1929C>T, XM_005264383.3:c.840C>T, XM_005264383.2:c.840C>T, XM_005264383.1:c.840C>T, NM_001083590.2:c.1716C>T, NM_001083590.1:c.1716C>T, XM_047444826.1:c.*32C>T

Select item 148860297911.

rs1488602979 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:27040714 (GRCh38)
2:27263582 (GRCh37)
Canonical SPDI:: NC_000002.12:27040713:T:G
Gene:: TMEM214 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.27040714T>G, NC_000002.11:g.27263582T>G, NM_017727.5:c.1947T>G, NM_017727.4:c.1947T>G, XM_005264381.4:c.2139T>G, XM_005264381.3:c.2139T>G, XM_005264381.2:c.2139T>G, XM_005264381.1:c.2139T>G, XM_005264382.4:c.2025T>G, XM_005264382.3:c.2025T>G, XM_005264382.2:c.2025T>G, XM_005264382.1:c.2025T>G, XM_005264383.3:c.936T>G, XM_005264383.2:c.936T>G, XM_005264383.1:c.936T>G, NM_001083590.2:c.1812T>G, NM_001083590.1:c.1812T>G

Select item 148840687212.

rs1488406872 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:27031334 (GRCh38)
2:27254202 (GRCh37)
Canonical SPDI:: NC_000002.12:27031333:C:G,NC_000002.12:27031333:C:T
Gene:: TMEM214 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.27031334C>G, NC_000002.12:g.27031334C>T, NC_000002.11:g.27254202C>G, NC_000002.11:g.27254202C>T

Select item 148812939613.

rs1488129396 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:27031080 (GRCh38)
2:27253948 (GRCh37)
Canonical SPDI:: NC_000002.12:27031079:T:C
Gene:: TMEM214 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.27031080T>C, NC_000002.11:g.27253948T>C

Select item 148775543514.

rs1487755435 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:27039887 (GRCh38)
2:27262755 (GRCh37)
Canonical SPDI:: NC_000002.12:27039886:G:C
Gene:: TMEM214 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000051/1 (GnomAD)
HGVS:: NC_000002.12:g.27039887G>C, NC_000002.11:g.27262755G>C, NG_082494.1:g.1178G>C

Select item 148729309915.

rs1487293099 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27032916 (GRCh38)
2:27255784 (GRCh37)
Canonical SPDI:: NC_000002.12:27032915:C:T
Gene:: TMEM214 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.27032916C>T, NC_000002.11:g.27255784C>T, NM_017727.4:c.-100C>T, NM_001083590.1:c.-100C>T

Select item 148714516716.

rs1487145167 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:27032303 (GRCh38)
2:27255171 (GRCh37)
Canonical SPDI:: NC_000002.12:27032302:A:C,NC_000002.12:27032302:A:G
Gene:: TMEM214 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.27032303A>C, NC_000002.12:g.27032303A>G, NC_000002.11:g.27255171A>C, NC_000002.11:g.27255171A>G

Select item 148672262117.

rs1486722621 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:27032955 (GRCh38)
2:27255823 (GRCh37)
Canonical SPDI:: NC_000002.12:27032954:C:A,NC_000002.12:27032954:C:T
Gene:: TMEM214 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000002.12:g.27032955C>A, NC_000002.12:g.27032955C>T, NC_000002.11:g.27255823C>A, NC_000002.11:g.27255823C>T, NM_017727.4:c.-61C>A, NM_017727.4:c.-61C>T, NM_001083590.1:c.-61C>A, NM_001083590.1:c.-61C>T

Select item 148661306018.

rs1486613060 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:27033859 (GRCh38)
2:27256727 (GRCh37)
Canonical SPDI:: NC_000002.12:27033858:A:T
Gene:: TMEM214 (Varview)
Functional Consequence:: intron_variant,genic_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)
T=0.000071/1 (TOMMO)
T=0.000342/1 (KOREAN)
HGVS:: NC_000002.12:g.27033859A>T, NC_000002.11:g.27256727A>T

Select item 148649140519.

rs1486491405 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:27040067 (GRCh38)
2:27262935 (GRCh37)
Canonical SPDI:: NC_000002.12:27040066:C:G
Gene:: TMEM214 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27040067C>G, NC_000002.11:g.27262935C>G, NG_082494.1:g.1358C>G, NM_017727.5:c.1660C>G, NM_017727.4:c.1660C>G, XM_005264381.4:c.1852C>G, XM_005264381.3:c.1852C>G, XM_005264381.2:c.1852C>G, XM_005264381.1:c.1852C>G, XM_005264382.4:c.1738C>G, XM_005264382.3:c.1738C>G, XM_005264382.2:c.1738C>G, XM_005264382.1:c.1738C>G, XM_005264383.3:c.649C>G, XM_005264383.2:c.649C>G, XM_005264383.1:c.649C>G, NM_001083590.2:c.1525C>G, NM_001083590.1:c.1525C>G, XM_047444826.1:c.1755C>G, NP_060197.4:p.Leu554Val, XP_005264438.1:p.Leu618Val, XP_005264439.1:p.Leu580Val, XP_005264440.1:p.Leu217Val, NP_001077059.1:p.Leu509Val

Select item 148558265720.

rs1485582657 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:27037863 (GRCh38)
2:27260731 (GRCh37)
Canonical SPDI:: NC_000002.12:27037862:A:G
Gene:: TMEM214 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27037863A>G, NC_000002.11:g.27260731A>G, XM_005264381.4:c.1201A>G, XM_005264381.3:c.1201A>G, XM_005264381.2:c.1201A>G, XM_005264381.1:c.1201A>G, XM_005264382.4:c.1201A>G, XM_005264382.3:c.1201A>G, XM_005264382.2:c.1201A>G, XM_005264382.1:c.1201A>G, XM_005264383.3:c.-3A>G, XM_005264383.2:c.-3A>G, XM_005264383.1:c.-3A>G, XM_047444826.1:c.1201A>G, XM_047444827.1:c.*62A>G, XP_005264438.1:p.Lys401Glu, XP_005264439.1:p.Lys401Glu, XP_047300782.1:p.Lys401Glu

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