SNP Links for Gene (Select 83941) - SNP

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Select item 14915487181.

rs1491548718 [Homo sapiens]

Variant type:: INS
Alleles:: ->CC [Show Flanks]
Chromosome:: 1:61715640 (GRCh38)
1:62181313 (GRCh37)
Canonical SPDI:: NC_000001.11:61715640::CC
Gene:: TM2D1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.61715640_61715641insCC, NC_000001.10:g.62181312_62181313insCC

Select item 14915281482.

rs1491528148 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:61721541 (GRCh38)
1:62187213 (GRCh37)
Canonical SPDI:: NC_000001.11:61721540:CA:
Gene:: TM2D1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.61721541_61721542del, NC_000001.10:g.62187213_62187214del

Select item 14915011673.

rs1491501167 has merged into rs1392329184 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA [Show Flanks]
Chromosome:: 1:61716604 (GRCh38)
1:62182276 (GRCh37)
Canonical SPDI:: NC_000001.11:61716592:ACACACACACACACA:ACACACACACA,NC_000001.11:61716592:ACACACACACACACA:ACACACACACACA,NC_000001.11:61716592:ACACACACACACACA:ACACACACACACACACA
Gene:: TM2D1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACA=0./0 (ALFA)
AC=0.00055/1 (Korea1K)
AC=0.00067/11 (TOMMO)
HGVS:: NC_000001.11:g.61716594CA[5], NC_000001.11:g.61716594CA[6], NC_000001.11:g.61716594CA[8], NC_000001.10:g.62182266CA[5], NC_000001.10:g.62182266CA[6], NC_000001.10:g.62182266CA[8]

Select item 14914760004.

rs1491476000 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:61715641 (GRCh38)
1:62181313 (GRCh37)
Canonical SPDI:: NC_000001.11:61715639:TGT:T
Gene:: TM2D1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.00006/2 (GnomAD)
HGVS:: NC_000001.11:g.61715641_61715642del, NC_000001.10:g.62181313_62181314del

Select item 14914661195.

rs1491466119 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 1:61701556 (GRCh38)
1:62167228 (GRCh37)
Canonical SPDI:: NC_000001.11:61701555:CG:
Gene:: TM2D1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
-=0.00004/3 (GnomAD)
HGVS:: NC_000001.11:g.61701556_61701557del, NC_000001.10:g.62167228_62167229del

Select item 14914624576.

rs1491462457 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:61682892 (GRCh38)
1:62148564 (GRCh37)
Canonical SPDI:: NC_000001.11:61682891:CA:
Gene:: TM2D1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.0003/1 (ALSPAC)
-=0.0003/1 (TWINSUK)
HGVS:: NC_000001.11:g.61682892_61682893del, NC_000001.10:g.62148564_62148565del

Select item 14914369007.

rs1491436900 has merged into rs1163953838 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATATATATATATATATAT>-,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 1:61691937 (GRCh38)
1:62157609 (GRCh37)
Canonical SPDI:: NC_000001.11:61691932:ATATATATATATATATATATATATATAT:ATAT,NC_000001.11:61691932:ATATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000001.11:61691932:ATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000001.11:61691932:ATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000001.11:61691932:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000001.11:61691932:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000001.11:61691932:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000001.11:61691932:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000001.11:61691932:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000001.11:61691932:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000001.11:61691932:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000001.11:61691932:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:61691932:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:61691932:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:61691932:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:61691932:ATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT
Gene:: TM2D1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0./0 (ALFA)
HGVS:: NC_000001.11:g.61691933AT[2], NC_000001.11:g.61691933AT[9], NC_000001.11:g.61691933AT[10], NC_000001.11:g.61691933AT[11], NC_000001.11:g.61691933AT[12], NC_000001.11:g.61691933AT[13], NC_000001.11:g.61691933AT[15], NC_000001.11:g.61691933AT[16], NC_000001.11:g.61691933AT[17], NC_000001.11:g.61691933AT[18], NC_000001.11:g.61691933AT[19], NC_000001.11:g.61691933AT[20], NC_000001.11:g.61691933AT[21], NC_000001.11:g.61691933AT[22], NC_000001.11:g.61691933AT[23], NC_000001.11:g.61691933AT[24], NC_000001.10:g.62157605AT[2], NC_000001.10:g.62157605AT[9], NC_000001.10:g.62157605AT[10], NC_000001.10:g.62157605AT[11], NC_000001.10:g.62157605AT[12], NC_000001.10:g.62157605AT[13], NC_000001.10:g.62157605AT[15], NC_000001.10:g.62157605AT[16], NC_000001.10:g.62157605AT[17], NC_000001.10:g.62157605AT[18], NC_000001.10:g.62157605AT[19], NC_000001.10:g.62157605AT[20], NC_000001.10:g.62157605AT[21], NC_000001.10:g.62157605AT[22], NC_000001.10:g.62157605AT[23], NC_000001.10:g.62157605AT[24]

Select item 14914209868.

rs1491420986 has merged into rs10710571 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 1:61696554 (GRCh38)
1:62162226 (GRCh37)
Canonical SPDI:: NC_000001.11:61696542:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:61696542:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:61696542:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:61696542:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:61696542:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:61696542:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:61696542:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:61696542:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: TM2D1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.0101/39 (ALSPAC)
A=0.0138/51 (TWINSUK)
A=0.1811/88 (NorthernSweden)
A=0.225/9 (GENOME_DK)
-=0.4413/2210 (1000Genomes)
HGVS:: NC_000001.11:g.61696554_61696558del, NC_000001.11:g.61696555_61696558del, NC_000001.11:g.61696556_61696558del, NC_000001.11:g.61696557_61696558del, NC_000001.11:g.61696558del, NC_000001.11:g.61696558dup, NC_000001.11:g.61696557_61696558dup, NC_000001.11:g.61696556_61696558dup, NC_000001.10:g.62162226_62162230del, NC_000001.10:g.62162227_62162230del, NC_000001.10:g.62162228_62162230del, NC_000001.10:g.62162229_62162230del, NC_000001.10:g.62162230del, NC_000001.10:g.62162230dup, NC_000001.10:g.62162229_62162230dup, NC_000001.10:g.62162228_62162230dup

Select item 14913703079.

rs1491370307 has merged into rs34211826 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:61721547 (GRCh38)
1:62187219 (GRCh37)
Canonical SPDI:: NC_000001.11:61721541:AAAAAAAAAAAAAAA:AAAAA,NC_000001.11:61721541:AAAAAAAAAAAAAAA:AAAAAAA,NC_000001.11:61721541:AAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:61721541:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:61721541:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:61721541:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:61721541:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:61721541:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:61721541:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:61721541:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61721541:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61721541:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TM2D1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
A=0.273/1052 (ALSPAC)
A=0.295/1094 (TWINSUK)
A=0.4415/219 (NorthernSweden)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000001.11:g.61721547_61721556del, NC_000001.11:g.61721549_61721556del, NC_000001.11:g.61721550_61721556del, NC_000001.11:g.61721551_61721556del, NC_000001.11:g.61721553_61721556del, NC_000001.11:g.61721554_61721556del, NC_000001.11:g.61721555_61721556del, NC_000001.11:g.61721556del, NC_000001.11:g.61721556dup, NC_000001.11:g.61721551_61721556dup, NC_000001.11:g.61721550_61721556dup, NC_000001.11:g.61721544_61721556dup, NC_000001.10:g.62187219_62187228del, NC_000001.10:g.62187221_62187228del, NC_000001.10:g.62187222_62187228del, NC_000001.10:g.62187223_62187228del, NC_000001.10:g.62187225_62187228del, NC_000001.10:g.62187226_62187228del, NC_000001.10:g.62187227_62187228del, NC_000001.10:g.62187228del, NC_000001.10:g.62187228dup, NC_000001.10:g.62187223_62187228dup, NC_000001.10:g.62187222_62187228dup, NC_000001.10:g.62187216_62187228dup

Select item 149126920710.

rs1491269207 [Homo sapiens]

Variant type:: INS
Alleles:: ->AG,ATG,G [Show Flanks]
Chromosome:: 1:61710446 (GRCh38)
1:62176119 (GRCh37)
Canonical SPDI:: NC_000001.11:61710446::AG,NC_000001.11:61710446::ATG,NC_000001.11:61710446::G
Gene:: TM2D1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00004/1 (TOMMO)
HGVS:: NC_000001.11:g.61710446_61710447insAG, NC_000001.11:g.61710446_61710447insATG, NC_000001.11:g.61710446_61710447insG, NC_000001.10:g.62176118_62176119insAG, NC_000001.10:g.62176118_62176119insATG, NC_000001.10:g.62176118_62176119insG

Select item 149124065611.

rs1491240656 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:61690456 (GRCh38)
1:62156128 (GRCh37)
Canonical SPDI:: NC_000001.11:61690455:CA:
Gene:: TM2D1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00025/3 (ALFA)
-=0.00023/6 (TOMMO)
HGVS:: NC_000001.11:g.61690456_61690457del, NC_000001.10:g.62156128_62156129del

Select item 149118234512.

rs1491182345 has merged into rs762550068 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:61690465 (GRCh38)
1:62156137 (GRCh37)
Canonical SPDI:: NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:61690456:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TM2D1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.00003/8 (TOPMED)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000001.11:g.61690465_61690481del, NC_000001.11:g.61690468_61690481del, NC_000001.11:g.61690469_61690481del, NC_000001.11:g.61690470_61690481del, NC_000001.11:g.61690471_61690481del, NC_000001.11:g.61690473_61690481del, NC_000001.11:g.61690474_61690481del, NC_000001.11:g.61690475_61690481del, NC_000001.11:g.61690476_61690481del, NC_000001.11:g.61690477_61690481del, NC_000001.11:g.61690478_61690481del, NC_000001.11:g.61690479_61690481del, NC_000001.11:g.61690480_61690481del, NC_000001.11:g.61690481del, NC_000001.11:g.61690481dup, NC_000001.11:g.61690480_61690481dup, NC_000001.11:g.61690479_61690481dup, NC_000001.11:g.61690478_61690481dup, NC_000001.11:g.61690477_61690481dup, NC_000001.11:g.61690476_61690481dup, NC_000001.11:g.61690475_61690481dup, NC_000001.11:g.61690474_61690481dup, NC_000001.11:g.61690473_61690481dup, NC_000001.11:g.61690472_61690481dup, NC_000001.11:g.61690471_61690481dup, NC_000001.11:g.61690470_61690481dup, NC_000001.11:g.61690469_61690481dup, NC_000001.11:g.61690468_61690481dup, NC_000001.11:g.61690467_61690481dup, NC_000001.11:g.61690466_61690481dup, NC_000001.11:g.61690465_61690481dup, NC_000001.11:g.61690461_61690481dup, NC_000001.11:g.61690460_61690481dup, NC_000001.11:g.61690459_61690481dup, NC_000001.11:g.61690458_61690481dup, NC_000001.11:g.61690457_61690481dup, NC_000001.11:g.61690481_61690482insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.61690481_61690482insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.61690481_61690482insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.61690481_61690482insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.61690481_61690482insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.61690481_61690482insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.61690481_61690482insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.61690481_61690482insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.61690481_61690482insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.61690481_61690482insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.61690481_61690482insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.61690481_61690482insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.61690481_61690482insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.61690481_61690482insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.61690457_61690481A[28]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.61690457_61690481A[27]CAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.61690457_61690481A[26]CAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.62156137_62156153del, NC_000001.10:g.62156140_62156153del, NC_000001.10:g.62156141_62156153del, NC_000001.10:g.62156142_62156153del, NC_000001.10:g.62156143_62156153del, NC_000001.10:g.62156145_62156153del, NC_000001.10:g.62156146_62156153del, NC_000001.10:g.62156147_62156153del, NC_000001.10:g.62156148_62156153del, NC_000001.10:g.62156149_62156153del, NC_000001.10:g.62156150_62156153del, NC_000001.10:g.62156151_62156153del, NC_000001.10:g.62156152_62156153del, NC_000001.10:g.62156153del, NC_000001.10:g.62156153dup, NC_000001.10:g.62156152_62156153dup, NC_000001.10:g.62156151_62156153dup, NC_000001.10:g.62156150_62156153dup, NC_000001.10:g.62156149_62156153dup, NC_000001.10:g.62156148_62156153dup, NC_000001.10:g.62156147_62156153dup, NC_000001.10:g.62156146_62156153dup, NC_000001.10:g.62156145_62156153dup, NC_000001.10:g.62156144_62156153dup, NC_000001.10:g.62156143_62156153dup, NC_000001.10:g.62156142_62156153dup, NC_000001.10:g.62156141_62156153dup, NC_000001.10:g.62156140_62156153dup, NC_000001.10:g.62156139_62156153dup, NC_000001.10:g.62156138_62156153dup, NC_000001.10:g.62156137_62156153dup, NC_000001.10:g.62156133_62156153dup, NC_000001.10:g.62156132_62156153dup, NC_000001.10:g.62156131_62156153dup, NC_000001.10:g.62156130_62156153dup, NC_000001.10:g.62156129_62156153dup, NC_000001.10:g.62156153_62156154insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.62156153_62156154insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.62156153_62156154insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.62156153_62156154insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.62156153_62156154insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.62156153_62156154insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.62156153_62156154insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.62156153_62156154insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.62156153_62156154insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.62156153_62156154insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.62156153_62156154insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.62156153_62156154insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.62156153_62156154insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.62156153_62156154insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.62156129_62156153A[28]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.62156129_62156153A[27]CAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.62156129_62156153A[26]CAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 149115897213.

rs1491158972 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 1:61716381 (GRCh38)
1:62182054 (GRCh37)
Canonical SPDI:: NC_000001.11:61716381:T:TAT
Gene:: TM2D1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TAT=0./0 (ALFA)
HGVS:: NC_000001.11:g.61716382_61716383insAT, NC_000001.10:g.62182054_62182055insAT

Select item 149113653014.

rs1491136530 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAAAAATATATATATATATG,AAAAAAT,AAAAAATATATATATATATATATG,AAAAAATATATATATATATATG,AAAAATAAATATATATATG,AAAAATATATATATATATATATG,AAAAATATATATATATATG,AAAAATATATATATATG,AAAATATATATATATATATATG,AAATATATATATATATATATATATG,AATATATATATATATATATATG,ATATATATATATATATATATG [Show Flanks]
Chromosome:: 1:61691933 (GRCh38)
1:62157606 (GRCh37)
Canonical SPDI:: NC_000001.11:61691933::AAAAAAATATATATATATATG,NC_000001.11:61691933::AAAAAAT,NC_000001.11:61691933::AAAAAATATATATATATATATATG,NC_000001.11:61691933::AAAAAATATATATATATATATG,NC_000001.11:61691933::AAAAATAAATATATATATG,NC_000001.11:61691933::AAAAATATATATATATATATATG,NC_000001.11:61691933::AAAAATATATATATATATG,NC_000001.11:61691933::AAAAATATATATATATG,NC_000001.11:61691933::AAAATATATATATATATATATG,NC_000001.11:61691933::AAATATATATATATATATATATATG,NC_000001.11:61691933::AATATATATATATATATATATG,NC_000001.11:61691933::ATATATATATATATATATATG
Gene:: TM2D1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAATATATATATATATATATG=0./0 (ALFA)
AAAAATATATATATATATATATG=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.61691933_61691934insAAAAAAATATATATATATATG, NC_000001.11:g.61691933_61691934insAAAAAAT, NC_000001.11:g.61691933_61691934insAAAAAATATATATATATATATATG, NC_000001.11:g.61691933_61691934insAAAAAATATATATATATATATG, NC_000001.11:g.61691933_61691934insAAAAATAAATATATATATG, NC_000001.11:g.61691933_61691934insAAAAATATATATATATATATATG, NC_000001.11:g.61691933_61691934insAAAAATATATATATATATG, NC_000001.11:g.61691933_61691934insAAAAATATATATATATG, NC_000001.11:g.61691933_61691934insAAAATATATATATATATATATG, NC_000001.11:g.61691933_61691934insAAATATATATATATATATATATATG, NC_000001.11:g.61691933_61691934insAATATATATATATATATATATG, NC_000001.11:g.61691933_61691934insATATATATATATATATATATG, NC_000001.10:g.62157605_62157606insAAAAAAATATATATATATATG, NC_000001.10:g.62157605_62157606insAAAAAAT, NC_000001.10:g.62157605_62157606insAAAAAATATATATATATATATATG, NC_000001.10:g.62157605_62157606insAAAAAATATATATATATATATG, NC_000001.10:g.62157605_62157606insAAAAATAAATATATATATG, NC_000001.10:g.62157605_62157606insAAAAATATATATATATATATATG, NC_000001.10:g.62157605_62157606insAAAAATATATATATATATG, NC_000001.10:g.62157605_62157606insAAAAATATATATATATG, NC_000001.10:g.62157605_62157606insAAAATATATATATATATATATG, NC_000001.10:g.62157605_62157606insAAATATATATATATATATATATATG, NC_000001.10:g.62157605_62157606insAATATATATATATATATATATG, NC_000001.10:g.62157605_62157606insATATATATATATATATATATG

Select item 149108346615.

rs1491083466 has merged into rs34250130 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 1:61698570 (GRCh38)
1:62164242 (GRCh37)
Canonical SPDI:: NC_000001.11:61698557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:61698557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:61698557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:61698557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:61698557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:61698557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:61698557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:61698557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: TM2D1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.2202/1103 (1000Genomes)
A=0.325/13 (GENOME_DK)
HGVS:: NC_000001.11:g.61698570_61698573del, NC_000001.11:g.61698571_61698573del, NC_000001.11:g.61698572_61698573del, NC_000001.11:g.61698573del, NC_000001.11:g.61698573dup, NC_000001.11:g.61698572_61698573dup, NC_000001.11:g.61698571_61698573dup, NC_000001.11:g.61698567_61698573dup, NC_000001.10:g.62164242_62164245del, NC_000001.10:g.62164243_62164245del, NC_000001.10:g.62164244_62164245del, NC_000001.10:g.62164245del, NC_000001.10:g.62164245dup, NC_000001.10:g.62164244_62164245dup, NC_000001.10:g.62164243_62164245dup, NC_000001.10:g.62164239_62164245dup

Select item 149105785516.

rs1491057855 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 1:61694854 (GRCh38)
1:62160527 (GRCh37)
Canonical SPDI:: NC_000001.11:61694854:A:ACA
Gene:: TM2D1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
AC=0.000011/1 (GnomAD)
AC=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.61694855_61694856insCA, NC_000001.10:g.62160527_62160528insCA

Select item 149099609517.

rs1490996095 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:61720894 (GRCh38)
1:62186566 (GRCh37)
Canonical SPDI:: NC_000001.11:61720893:G:C
Gene:: TM2D1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.61720894G>C, NC_000001.10:g.62186566G>C

Select item 149094045318.

rs1490940453 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:61723135 (GRCh38)
1:62188807 (GRCh37)
Canonical SPDI:: NC_000001.11:61723134:C:T
Gene:: TM2D1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.61723135C>T, NC_000001.10:g.62188807C>T

Select item 149077820519.

rs1490778205 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:61683840 (GRCh38)
1:62149512 (GRCh37)
Canonical SPDI:: NC_000001.11:61683839:A:C,NC_000001.11:61683839:A:G
Gene:: TM2D1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.61683840A>C, NC_000001.11:g.61683840A>G, NC_000001.10:g.62149512A>C, NC_000001.10:g.62149512A>G

Select item 149059555220.

rs1490595552 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:61684407 (GRCh38)
1:62150079 (GRCh37)
Canonical SPDI:: NC_000001.11:61684406:T:C
Gene:: TM2D1 (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_000001.11:g.61684407T>C, NC_000001.10:g.62150079T>C

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