SNP Links for Gene (Select 387590) - SNP

Links from Gene

Items: 1 to 20 of 12762

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Select item 14913688791.

rs1491368879 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 22:16630977 (GRCh38)
22:17111867 (GRCh37)
Canonical SPDI:: NC_000022.11:16630976:TC:
Gene:: TPTEP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000077/8 (GnomAD)
-=0.001093/2 (Korea1K)
HGVS:: NC_000022.11:g.16630977_16630978del, NC_000022.10:g.17111867_17111868del

Select item 14913512972.

rs1491351297 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTTT [Show Flanks]
Chromosome:: 22:16607698 (GRCh38)
22:17088589 (GRCh37)
Canonical SPDI:: NC_000022.11:16607698:TTTT:TTTTGTTTT
Gene:: TPTEP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTGTTTT=0.000071/1 (ALFA)
TTTTG=0.000015/4 (TOPMED)
TTTTG=0.000066/3 (GnomAD)
HGVS:: NC_000022.11:g.16607699_16607702T[4]GTTTT[1], NC_000022.10:g.17088589_17088592T[4]GTTTT[1]

Select item 14912700453.

rs1491270045 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 22:16635373 (GRCh38)
22:17116264 (GRCh37)
Canonical SPDI:: NC_000022.11:16635373:A:AA
Gene:: TPTEP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.16635374dup, NC_000022.10:g.17116264dup

Select item 14912690914.

rs1491269091 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 22:16635352 (GRCh38)
22:17116242 (GRCh37)
Canonical SPDI:: NC_000022.11:16635351:GT:
Gene:: TPTEP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000169/2 (ALFA)
-=0.000044/5 (GnomAD)
-=0.000071/1 (TOMMO)
HGVS:: NC_000022.11:g.16635352_16635353del, NC_000022.10:g.17116242_17116243del

Select item 14912187965.

rs1491218796 has merged into rs55724333 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:16639052 (GRCh38)
22:17119942 (GRCh37)
Canonical SPDI:: NC_000022.11:16639041:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:16639041:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:16639041:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:16639041:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:16639041:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:16639041:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:16639041:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:16639041:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:16639041:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:16639041:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:16639041:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:16639041:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:16639041:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:16639041:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:16639041:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:16639041:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:16639041:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:16639041:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:16639041:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:16639041:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:16639041:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:16639041:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:16639041:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:16639041:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TPTEP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAA=0./0 (GENOME_DK)
HGVS:: NC_000022.11:g.16639052_16639064del, NC_000022.11:g.16639053_16639064del, NC_000022.11:g.16639054_16639064del, NC_000022.11:g.16639055_16639064del, NC_000022.11:g.16639056_16639064del, NC_000022.11:g.16639057_16639064del, NC_000022.11:g.16639058_16639064del, NC_000022.11:g.16639059_16639064del, NC_000022.11:g.16639060_16639064del, NC_000022.11:g.16639061_16639064del, NC_000022.11:g.16639062_16639064del, NC_000022.11:g.16639063_16639064del, NC_000022.11:g.16639064del, NC_000022.11:g.16639064dup, NC_000022.11:g.16639063_16639064dup, NC_000022.11:g.16639062_16639064dup, NC_000022.11:g.16639061_16639064dup, NC_000022.11:g.16639060_16639064dup, NC_000022.11:g.16639059_16639064dup, NC_000022.11:g.16639056_16639064dup, NC_000022.11:g.16639054_16639064dup, NC_000022.11:g.16639053_16639064dup, NC_000022.11:g.16639052_16639064dup, NC_000022.11:g.16639064_16639065insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.17119942_17119954del, NC_000022.10:g.17119943_17119954del, NC_000022.10:g.17119944_17119954del, NC_000022.10:g.17119945_17119954del, NC_000022.10:g.17119946_17119954del, NC_000022.10:g.17119947_17119954del, NC_000022.10:g.17119948_17119954del, NC_000022.10:g.17119949_17119954del, NC_000022.10:g.17119950_17119954del, NC_000022.10:g.17119951_17119954del, NC_000022.10:g.17119952_17119954del, NC_000022.10:g.17119953_17119954del, NC_000022.10:g.17119954del, NC_000022.10:g.17119954dup, NC_000022.10:g.17119953_17119954dup, NC_000022.10:g.17119952_17119954dup, NC_000022.10:g.17119951_17119954dup, NC_000022.10:g.17119950_17119954dup, NC_000022.10:g.17119949_17119954dup, NC_000022.10:g.17119946_17119954dup, NC_000022.10:g.17119944_17119954dup, NC_000022.10:g.17119943_17119954dup, NC_000022.10:g.17119942_17119954dup, NC_000022.10:g.17119954_17119955insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14912102836.

rs1491210283 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 22:16630977 (GRCh38)
22:17111868 (GRCh37)
Canonical SPDI:: NC_000022.11:16630977:C:CC
Gene:: TPTEP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.00004/1 (TOMMO)
C=0.00012/11 (GnomAD)
HGVS:: NC_000022.11:g.16630978dup, NC_000022.10:g.17111868dup

Select item 14911225127.

rs1491122512 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 22:16635373 (GRCh38)
22:17116263 (GRCh37)
Canonical SPDI:: NC_000022.11:16635372:TA:
Gene:: TPTEP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.16635373_16635374del, NC_000022.10:g.17116263_17116264del

Select item 14911094398.

rs1491109439 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:16639041 (GRCh38)
22:17119931 (GRCh37)
Canonical SPDI:: NC_000022.11:16639040:CA:
Gene:: TPTEP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.16639041_16639042del, NC_000022.10:g.17119931_17119932del

Select item 14909975479.

rs1490997547 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 22:16613898 (GRCh38)
22:17094788 (GRCh37)
Canonical SPDI:: NC_000022.11:16613897:C:A,NC_000022.11:16613897:C:G
Gene:: TPTEP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.16613898C>A, NC_000022.11:g.16613898C>G, NC_000022.10:g.17094788C>A, NC_000022.10:g.17094788C>G

Select item 149094879610.

rs1490948796 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:16603411 (GRCh38)
22:17084301 (GRCh37)
Canonical SPDI:: NC_000022.11:16603410:A:G
Gene:: TPTEP1 (Varview)
Functional Consequence:: intron_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_000022.11:g.16603411A>G, NC_000022.10:g.17084301A>G

Select item 149074152011.

rs1490741520 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 22:16623763 (GRCh38)
22:17104653 (GRCh37)
Canonical SPDI:: NC_000022.11:16623762:A:C,NC_000022.11:16623762:A:G
Gene:: TPTEP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.16623763A>C, NC_000022.11:g.16623763A>G, NC_000022.10:g.17104653A>C, NC_000022.10:g.17104653A>G

Select item 149067190012.

rs1490671900 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:16640414 (GRCh38)
22:17121304 (GRCh37)
Canonical SPDI:: NC_000022.11:16640413:A:G
Gene:: TPTEP1 (Varview)
Functional Consequence:: intron_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_000022.11:g.16640414A>G, NC_000022.10:g.17121304A>G

Select item 149046970813.

rs1490469708 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:16619860 (GRCh38)
22:17100750 (GRCh37)
Canonical SPDI:: NC_000022.11:16619859:G:A
Gene:: TPTEP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000022.11:g.16619860G>A, NC_000022.10:g.17100750G>A

Select item 149044972714.

rs1490449727 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:16638870 (GRCh38)
22:17119760 (GRCh37)
Canonical SPDI:: NC_000022.11:16638869:G:A
Gene:: TPTEP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000546/1 (Korea1K)
HGVS:: NC_000022.11:g.16638870G>A, NC_000022.10:g.17119760G>A

Select item 149040620615.

rs1490406206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:16611071 (GRCh38)
22:17091961 (GRCh37)
Canonical SPDI:: NC_000022.11:16611070:G:T
Gene:: TPTEP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.16611071G>T, NC_000022.10:g.17091961G>T

Select item 149037381216.

rs1490373812 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:16634917 (GRCh38)
22:17115807 (GRCh37)
Canonical SPDI:: NC_000022.11:16634916:G:T
Gene:: TPTEP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.16634917G>T, NC_000022.10:g.17115807G>T

Select item 149025526317.

rs1490255263 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 22:16600510 (GRCh38)
22:17081400 (GRCh37)
Canonical SPDI:: NC_000022.11:16600506:GAGAG:GAG
Gene:: TPTEP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.16600508AG[1], NC_000022.10:g.17081398AG[1]

Select item 149023035818.

rs1490230358 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:16610275 (GRCh38)
22:17091165 (GRCh37)
Canonical SPDI:: NC_000022.11:16610274:G:A
Gene:: TPTEP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/1 (GnomAD)
HGVS:: NC_000022.11:g.16610275G>A, NC_000022.10:g.17091165G>A

Select item 149017686519.

rs1490176865 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATT>- [Show Flanks]
Chromosome:: 22:16638699 (GRCh38)
22:17119589 (GRCh37)
Canonical SPDI:: NC_000022.11:16638696:TTATT:TT
Gene:: TPTEP1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0.00007/1 (ALFA)
HGVS:: NC_000022.11:g.16638699_16638701del, NC_000022.10:g.17119589_17119591del, NR_001591.1:n.872_874del

Select item 149012094620.

rs1490120946 [Homo sapiens]

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

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