SNP Links for Gene (Select 222865) - SNP

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Select item 14914937861.

rs1491493786 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA [Show Flanks]
Chromosome:: 7:98850274 (GRCh38)
7:98447898 (GRCh37)
Canonical SPDI:: NC_000007.14:98850274::A,NC_000007.14:98850274::ATA,NC_000007.14:98850274::ATATA,NC_000007.14:98850274::ATATATA,NC_000007.14:98850274::ATATATATA,NC_000007.14:98850274::ATATATATATA,NC_000007.14:98850274::ATATATATATATA,NC_000007.14:98850274::ATATATATATATATA,NC_000007.14:98850274::ATATATATATATATATA,NC_000007.14:98850274::ATATATATATATATATATA
Gene:: TMEM130 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
HGVS:: NC_000007.14:g.98850274_98850275insA, NC_000007.14:g.98850274_98850275insATA, NC_000007.14:g.98850274_98850275insATATA, NC_000007.14:g.98850274_98850275insATATATA, NC_000007.14:g.98850274_98850275insATATATATA, NC_000007.14:g.98850274_98850275insATATATATATA, NC_000007.14:g.98850274_98850275insATATATATATATA, NC_000007.14:g.98850274_98850275insATATATATATATATA, NC_000007.14:g.98850274_98850275insATATATATATATATATA, NC_000007.14:g.98850274_98850275insATATATATATATATATATA, NC_000007.13:g.98447897_98447898insA, NC_000007.13:g.98447897_98447898insATA, NC_000007.13:g.98447897_98447898insATATA, NC_000007.13:g.98447897_98447898insATATATA, NC_000007.13:g.98447897_98447898insATATATATA, NC_000007.13:g.98447897_98447898insATATATATATA, NC_000007.13:g.98447897_98447898insATATATATATATA, NC_000007.13:g.98447897_98447898insATATATATATATATA, NC_000007.13:g.98447897_98447898insATATATATATATATATA, NC_000007.13:g.98447897_98447898insATATATATATATATATATA, NW_003571041.1:g.219456_219457insA, NW_003571041.1:g.219456_219457insATA, NW_003571041.1:g.219456_219457insATATA, NW_003571041.1:g.219456_219457insATATATA, NW_003571041.1:g.219456_219457insATATATATA, NW_003571041.1:g.219456_219457insATATATATATA, NW_003571041.1:g.219456_219457insATATATATATATA, NW_003571041.1:g.219456_219457insATATATATATATATA, NW_003571041.1:g.219456_219457insATATATATATATATATA, NW_003571041.1:g.219456_219457insATATATATATATATATATA

Select item 14914750162.

rs1491475016 has merged into rs3066865 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:98860951 (GRCh38)
7:98458574 (GRCh37)
Canonical SPDI:: NC_000007.14:98860942:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000007.14:98860942:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:98860942:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:98860942:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:98860942:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:98860942:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:98860942:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:98860942:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:98860942:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:98860942:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:98860942:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:98860942:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:98860942:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:98860942:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:98860942:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:98860942:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:98860942:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:98860942:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:98860942:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:98860942:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:98860942:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:98860942:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TMEM130 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
AAA=0.3119/1562 (1000Genomes)
HGVS:: NC_000007.14:g.98860951_98860965del, NC_000007.14:g.98860952_98860965del, NC_000007.14:g.98860953_98860965del, NC_000007.14:g.98860954_98860965del, NC_000007.14:g.98860955_98860965del, NC_000007.14:g.98860956_98860965del, NC_000007.14:g.98860957_98860965del, NC_000007.14:g.98860958_98860965del, NC_000007.14:g.98860959_98860965del, NC_000007.14:g.98860960_98860965del, NC_000007.14:g.98860961_98860965del, NC_000007.14:g.98860962_98860965del, NC_000007.14:g.98860963_98860965del, NC_000007.14:g.98860964_98860965del, NC_000007.14:g.98860965del, NC_000007.14:g.98860965dup, NC_000007.14:g.98860964_98860965dup, NC_000007.14:g.98860963_98860965dup, NC_000007.14:g.98860962_98860965dup, NC_000007.14:g.98860961_98860965dup, NC_000007.14:g.98860960_98860965dup, NC_000007.14:g.98860959_98860965dup, NC_000007.13:g.98458574_98458588del, NC_000007.13:g.98458575_98458588del, NC_000007.13:g.98458576_98458588del, NC_000007.13:g.98458577_98458588del, NC_000007.13:g.98458578_98458588del, NC_000007.13:g.98458579_98458588del, NC_000007.13:g.98458580_98458588del, NC_000007.13:g.98458581_98458588del, NC_000007.13:g.98458582_98458588del, NC_000007.13:g.98458583_98458588del, NC_000007.13:g.98458584_98458588del, NC_000007.13:g.98458585_98458588del, NC_000007.13:g.98458586_98458588del, NC_000007.13:g.98458587_98458588del, NC_000007.13:g.98458588del, NC_000007.13:g.98458588dup, NC_000007.13:g.98458587_98458588dup, NC_000007.13:g.98458586_98458588dup, NC_000007.13:g.98458585_98458588dup, NC_000007.13:g.98458584_98458588dup, NC_000007.13:g.98458583_98458588dup, NC_000007.13:g.98458582_98458588dup, NW_003571041.1:g.230133_230147del, NW_003571041.1:g.230134_230147del, NW_003571041.1:g.230135_230147del, NW_003571041.1:g.230136_230147del, NW_003571041.1:g.230137_230147del, NW_003571041.1:g.230138_230147del, NW_003571041.1:g.230139_230147del, NW_003571041.1:g.230140_230147del, NW_003571041.1:g.230141_230147del, NW_003571041.1:g.230142_230147del, NW_003571041.1:g.230143_230147del, NW_003571041.1:g.230144_230147del, NW_003571041.1:g.230145_230147del, NW_003571041.1:g.230146_230147del, NW_003571041.1:g.230147del, NW_003571041.1:g.230147dup, NW_003571041.1:g.230146_230147dup, NW_003571041.1:g.230145_230147dup, NW_003571041.1:g.230144_230147dup, NW_003571041.1:g.230143_230147dup, NW_003571041.1:g.230142_230147dup, NW_003571041.1:g.230141_230147dup

Select item 14913736513.

rs1491373651 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:98860942 (GRCh38)
7:98458565 (GRCh37)
Canonical SPDI:: NC_000007.14:98860941:CA:
Gene:: TMEM130 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00093/11 (ALFA)
HGVS:: NC_000007.14:g.98860942_98860943del, NC_000007.13:g.98458565_98458566del, NW_003571041.1:g.230124_230125del

Select item 14913232034.

rs1491323203 has merged into rs1554398023 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:98850287 (GRCh38)
7:98447910 (GRCh37)
Canonical SPDI:: NC_000007.14:98850273:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:98850273:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:98850273:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:98850273:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:98850273:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:98850273:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:98850273:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:98850273:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:98850273:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:98850273:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:98850273:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:98850273:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:98850273:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:98850273:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:98850273:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:98850273:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:98850273:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:98850273:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:98850273:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:98850273:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:98850273:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:98850273:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:98850273:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:98850273:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TMEM130 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.98850287_98850288del, NC_000007.14:g.98850288del, NC_000007.14:g.98850288dup, NC_000007.14:g.98850287_98850288dup, NC_000007.14:g.98850286_98850288dup, NC_000007.14:g.98850285_98850288dup, NC_000007.14:g.98850284_98850288dup, NC_000007.14:g.98850282_98850288dup, NC_000007.14:g.98850281_98850288dup, NC_000007.14:g.98850280_98850288dup, NC_000007.14:g.98850279_98850288dup, NC_000007.14:g.98850278_98850288dup, NC_000007.14:g.98850277_98850288dup, NC_000007.14:g.98850276_98850288dup, NC_000007.14:g.98850275_98850288dup, NC_000007.14:g.98850274_98850288dup, NC_000007.14:g.98850288_98850289insTTTTTTTTTTTTTTTT, NC_000007.14:g.98850288_98850289insTTTTTTTTTTTTTTTTT, NC_000007.14:g.98850288_98850289insTTTTTTTTTTTTTTTTTT, NC_000007.14:g.98850288_98850289insTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.98850288_98850289insTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.98850288_98850289insTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.98850288_98850289insTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.98850288_98850289insTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.98447910_98447911del, NC_000007.13:g.98447911del, NC_000007.13:g.98447911dup, NC_000007.13:g.98447910_98447911dup, NC_000007.13:g.98447909_98447911dup, NC_000007.13:g.98447908_98447911dup, NC_000007.13:g.98447907_98447911dup, NC_000007.13:g.98447905_98447911dup, NC_000007.13:g.98447904_98447911dup, NC_000007.13:g.98447903_98447911dup, NC_000007.13:g.98447902_98447911dup, NC_000007.13:g.98447901_98447911dup, NC_000007.13:g.98447900_98447911dup, NC_000007.13:g.98447899_98447911dup, NC_000007.13:g.98447898_98447911dup, NC_000007.13:g.98447897_98447911dup, NC_000007.13:g.98447911_98447912insTTTTTTTTTTTTTTTT, NC_000007.13:g.98447911_98447912insTTTTTTTTTTTTTTTTT, NC_000007.13:g.98447911_98447912insTTTTTTTTTTTTTTTTTT, NC_000007.13:g.98447911_98447912insTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.98447911_98447912insTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.98447911_98447912insTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.98447911_98447912insTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.98447911_98447912insTTTTTTTTTTTTTTTTTTTTTTT, NW_003571041.1:g.219469_219470del, NW_003571041.1:g.219470del, NW_003571041.1:g.219470dup, NW_003571041.1:g.219469_219470dup, NW_003571041.1:g.219468_219470dup, NW_003571041.1:g.219467_219470dup, NW_003571041.1:g.219466_219470dup, NW_003571041.1:g.219464_219470dup, NW_003571041.1:g.219463_219470dup, NW_003571041.1:g.219462_219470dup, NW_003571041.1:g.219461_219470dup, NW_003571041.1:g.219460_219470dup, NW_003571041.1:g.219459_219470dup, NW_003571041.1:g.219458_219470dup, NW_003571041.1:g.219457_219470dup, NW_003571041.1:g.219456_219470dup, NW_003571041.1:g.219470_219471insTTTTTTTTTTTTTTTT, NW_003571041.1:g.219470_219471insTTTTTTTTTTTTTTTTT, NW_003571041.1:g.219470_219471insTTTTTTTTTTTTTTTTTT, NW_003571041.1:g.219470_219471insTTTTTTTTTTTTTTTTTTT, NW_003571041.1:g.219470_219471insTTTTTTTTTTTTTTTTTTTT, NW_003571041.1:g.219470_219471insTTTTTTTTTTTTTTTTTTTTT, NW_003571041.1:g.219470_219471insTTTTTTTTTTTTTTTTTTTTTT, NW_003571041.1:g.219470_219471insTTTTTTTTTTTTTTTTTTTTTTT

Select item 14909747855.

rs1490974785 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:98857749 (GRCh38)
7:98455372 (GRCh37)
Canonical SPDI:: NC_000007.14:98857748:G:T
Gene:: TMEM130 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000422/5 (ALFA)
T=0.000156/1 (1000Genomes)
T=0.000162/21 (GnomAD)
HGVS:: NC_000007.14:g.98857749G>T, NC_000007.13:g.98455372G>T, NW_003571041.1:g.226931G>T

Select item 14909547776.

rs1490954777 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:98870621 (GRCh38)
7:98468244 (GRCh37)
Canonical SPDI:: NC_000007.14:98870620:A:T
Gene:: TMEM130 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00902/147 (ALFA)
T=0.01304/38 (KOREAN)
HGVS:: NC_000007.14:g.98870621A>T, NC_000007.13:g.98468244A>T, NW_003571041.1:g.239803A>T

Select item 14909290427.

rs1490929042 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:98871616 (GRCh38)
7:98469239 (GRCh37)
Canonical SPDI:: NC_000007.14:98871615:C:T
Gene:: TMEM130 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.98871616C>T, NC_000007.13:g.98469239C>T, NW_003571041.1:g.240798C>T

Select item 14906859838.

rs1490685983 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:98856875 (GRCh38)
7:98454498 (GRCh37)
Canonical SPDI:: NC_000007.14:98856874:A:G
Gene:: TMEM130 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.98856875A>G, NC_000007.13:g.98454498A>G, NW_003571041.1:g.226057A>G

Select item 14906230579.

rs1490623057 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:98849948 (GRCh38)
7:98447571 (GRCh37)
Canonical SPDI:: NC_000007.14:98849947:G:A
Gene:: TMEM130 (Varview)
Functional Consequence:: intron_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_000007.14:g.98849948G>A, NC_000007.13:g.98447571G>A, NW_003571041.1:g.219130G>A

Select item 149052856410.

rs1490528564 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:98864240 (GRCh38)
7:98461863 (GRCh37)
Canonical SPDI:: NC_000007.14:98864239:C:T
Gene:: TMEM130 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.98864240C>T, NC_000007.13:g.98461863C>T, NW_003571041.1:g.233422C>T

Select item 149046362611.

rs1490463626 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:98870293 (GRCh38)
7:98467916 (GRCh37)
Canonical SPDI:: NC_000007.14:98870292:G:A,NC_000007.14:98870292:G:C
Gene:: TMEM130 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00039/2 (GnomAD)
C=0.00342/55 (TOMMO)
C=0.04023/114 (KOREAN)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000007.14:g.98870293G>A, NC_000007.14:g.98870293G>C, NC_000007.13:g.98467916G>A, NC_000007.13:g.98467916G>C, NW_003571041.1:g.239475G>A, NW_003571041.1:g.239475G>C

Select item 149019456312.

rs1490194563 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:98856313 (GRCh38)
7:98453936 (GRCh37)
Canonical SPDI:: NC_000007.14:98856312:T:C
Gene:: TMEM130 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00011/2 (TOMMO)
HGVS:: NC_000007.14:g.98856313T>C, NC_000007.13:g.98453936T>C, NW_003571041.1:g.225495T>C

Select item 149013210313.

rs1490132103 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:98849361 (GRCh38)
7:98446984 (GRCh37)
Canonical SPDI:: NC_000007.14:98849360:G:A
Gene:: TMEM130 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.98849361G>A, NC_000007.13:g.98446984G>A, NW_003571041.1:g.218543G>A

Select item 149003701614.

rs1490037016 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:98863829 (GRCh38)
7:98461452 (GRCh37)
Canonical SPDI:: NC_000007.14:98863828:T:C
Gene:: TMEM130 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.98863829T>C, NC_000007.13:g.98461452T>C, NW_003571041.1:g.233011T>C

Select item 149000034915.

rs1490000349 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:98856928 (GRCh38)
7:98454551 (GRCh37)
Canonical SPDI:: NC_000007.14:98856927:T:G
Gene:: TMEM130 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.98856928T>G, NC_000007.13:g.98454551T>G, NW_003571041.1:g.226110T>G

Select item 148970415516.

rs1489704155 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:98858990 (GRCh38)
7:98456613 (GRCh37)
Canonical SPDI:: NC_000007.14:98858989:G:A
Gene:: TMEM130 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/2 (GnomAD)
HGVS:: NC_000007.14:g.98858990G>A, NC_000007.13:g.98456613G>A, NW_003571041.1:g.228172G>A

Select item 148951254817.

rs1489512548 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:98848120 (GRCh38)
7:98445743 (GRCh37)
Canonical SPDI:: NC_000007.14:98848119:A:G
Gene:: TMEM130 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.98848120A>G, NC_000007.13:g.98445743A>G, NW_003571041.1:g.217302A>G, NM_152913.3:c.1208T>C, NM_152913.2:c.1208T>C, NM_001134450.2:c.1244T>C, NM_001134450.1:c.1244T>C, NM_001134451.2:c.902T>C, NM_001134451.1:c.902T>C, NP_690877.1:p.Ile403Thr, NP_001127922.1:p.Ile415Thr, NP_001127923.1:p.Ile301Thr

Select item 148948790418.

rs1489487904 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:98848781 (GRCh38)
7:98446404 (GRCh37)
Canonical SPDI:: NC_000007.14:98848780:A:G
Gene:: TMEM130 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.98848781A>G, NC_000007.13:g.98446404A>G, NW_003571041.1:g.217963A>G

Select item 148944493019.

rs1489444930 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:98865127 (GRCh38)
7:98462750 (GRCh37)
Canonical SPDI:: NC_000007.14:98865126:G:C
Gene:: TMEM130 (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_000007.14:g.98865127G>C, NC_000007.13:g.98462750G>C, NW_003571041.1:g.234309G>C

Select item 148939931220.

rs1489399312 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:98862691 (GRCh38)
7:98460314 (GRCh37)
Canonical SPDI:: NC_000007.14:98862690:G:C
Gene:: TMEM130 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.98862691G>C, NC_000007.13:g.98460314G>C, NW_003571041.1:g.231873G>C

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