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Select item 14913642311.

rs1491364231 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTTTTT [Show Flanks]
Chromosome:: 5:177409943 (GRCh38)
5:176836945 (GRCh37)
Canonical SPDI:: NC_000005.10:177409943:TTTTTTT:TTTTTTTCTTTTTTT
Gene:: F12 (Varview), SLC34A1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTTCTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.177409944_177409950T[7]CTTTTTTT[1], NC_000005.9:g.176836945_176836951T[7]CTTTTTTT[1], NG_007568.1:g.4627_4633A[7]GAAAAAAA[1]

Select item 14913454282.

rs1491345428 has merged into rs34097461 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:177410313 (GRCh38)
5:176837314 (GRCh37)
Canonical SPDI:: NC_000005.10:177410300:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:177410300:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:177410300:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:177410300:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:177410300:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:177410300:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:177410300:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:177410300:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:177410300:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:177410300:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: F12 (Varview), SLC34A1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.1497/577 (ALSPAC)
T=0.1729/641 (TWINSUK)
T=0.4958/2483 (1000Genomes)
HGVS:: NC_000005.10:g.177410313_177410317del, NC_000005.10:g.177410314_177410317del, NC_000005.10:g.177410315_177410317del, NC_000005.10:g.177410316_177410317del, NC_000005.10:g.177410317del, NC_000005.10:g.177410317dup, NC_000005.10:g.177410316_177410317dup, NC_000005.10:g.177410315_177410317dup, NC_000005.10:g.177410314_177410317dup, NC_000005.10:g.177410309_177410317dup, NC_000005.9:g.176837314_176837318del, NC_000005.9:g.176837315_176837318del, NC_000005.9:g.176837316_176837318del, NC_000005.9:g.176837317_176837318del, NC_000005.9:g.176837318del, NC_000005.9:g.176837318dup, NC_000005.9:g.176837317_176837318dup, NC_000005.9:g.176837316_176837318dup, NC_000005.9:g.176837315_176837318dup, NC_000005.9:g.176837310_176837318dup, NG_007568.1:g.4272_4276del, NG_007568.1:g.4273_4276del, NG_007568.1:g.4274_4276del, NG_007568.1:g.4275_4276del, NG_007568.1:g.4276del, NG_007568.1:g.4276dup, NG_007568.1:g.4275_4276dup, NG_007568.1:g.4274_4276dup, NG_007568.1:g.4273_4276dup, NG_007568.1:g.4268_4276dup

Select item 14912456963.

rs1491245696 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:177410300 (GRCh38)
5:176837301 (GRCh37)
Canonical SPDI:: NC_000005.10:177410299:CT:
Gene:: F12 (Varview), SLC34A1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.177410300_177410301del, NC_000005.9:g.176837301_176837302del, NG_007568.1:g.4276_4277del

Select item 14912426634.

rs1491242663 has merged into rs11290491 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:177412435 (GRCh38)
5:176839436 (GRCh37)
Canonical SPDI:: NC_000005.10:177412424:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:177412424:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:177412424:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:177412424:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:177412424:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:177412424:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:177412424:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:177412424:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC34A1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.2702/1353 (1000Genomes)
HGVS:: NC_000005.10:g.177412435_177412439del, NC_000005.10:g.177412436_177412439del, NC_000005.10:g.177412437_177412439del, NC_000005.10:g.177412438_177412439del, NC_000005.10:g.177412439del, NC_000005.10:g.177412439dup, NC_000005.10:g.177412437_177412439dup, NC_000005.10:g.177412432_177412439dup, NC_000005.9:g.176839436_176839440del, NC_000005.9:g.176839437_176839440del, NC_000005.9:g.176839438_176839440del, NC_000005.9:g.176839439_176839440del, NC_000005.9:g.176839440del, NC_000005.9:g.176839440dup, NC_000005.9:g.176839438_176839440dup, NC_000005.9:g.176839433_176839440dup, NG_007568.1:g.2148_2152del, NG_007568.1:g.2149_2152del, NG_007568.1:g.2150_2152del, NG_007568.1:g.2151_2152del, NG_007568.1:g.2152del, NG_007568.1:g.2152dup, NG_007568.1:g.2150_2152dup, NG_007568.1:g.2145_2152dup

Select item 14911535355.

rs1491153535 has merged into rs1221023333 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:177409954 (GRCh38)
5:176836955 (GRCh37)
Canonical SPDI:: NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:177409942:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: F12 (Varview), SLC34A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.177409954_177409962del, NC_000005.10:g.177409955_177409962del, NC_000005.10:g.177409956_177409962del, NC_000005.10:g.177409957_177409962del, NC_000005.10:g.177409958_177409962del, NC_000005.10:g.177409959_177409962del, NC_000005.10:g.177409960_177409962del, NC_000005.10:g.177409961_177409962del, NC_000005.10:g.177409962del, NC_000005.10:g.177409962dup, NC_000005.10:g.177409961_177409962dup, NC_000005.10:g.177409960_177409962dup, NC_000005.10:g.177409959_177409962dup, NC_000005.10:g.177409958_177409962dup, NC_000005.10:g.177409957_177409962dup, NC_000005.10:g.177409956_177409962dup, NC_000005.10:g.177409955_177409962dup, NC_000005.10:g.177409954_177409962dup, NC_000005.10:g.177409953_177409962dup, NC_000005.10:g.177409943_177409962T[30]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.177409952_177409962dup, NC_000005.10:g.177409951_177409962dup, NC_000005.10:g.177409950_177409962dup, NC_000005.10:g.177409949_177409962dup, NC_000005.10:g.177409948_177409962dup, NC_000005.10:g.177409947_177409962dup, NC_000005.10:g.177409946_177409962dup, NC_000005.10:g.177409945_177409962dup, NC_000005.10:g.177409944_177409962dup, NC_000005.10:g.177409943_177409962dup, NC_000005.10:g.177409962_177409963insTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.177409962_177409963insTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.177409962_177409963insTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.177409962_177409963insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.177409962_177409963insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.177409962_177409963insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.177409962_177409963insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.177409962_177409963insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.177409962_177409963insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.176836955_176836963del, NC_000005.9:g.176836956_176836963del, NC_000005.9:g.176836957_176836963del, NC_000005.9:g.176836958_176836963del, NC_000005.9:g.176836959_176836963del, NC_000005.9:g.176836960_176836963del, NC_000005.9:g.176836961_176836963del, NC_000005.9:g.176836962_176836963del, NC_000005.9:g.176836963del, NC_000005.9:g.176836963dup, NC_000005.9:g.176836962_176836963dup, NC_000005.9:g.176836961_176836963dup, NC_000005.9:g.176836960_176836963dup, NC_000005.9:g.176836959_176836963dup, NC_000005.9:g.176836958_176836963dup, NC_000005.9:g.176836957_176836963dup, NC_000005.9:g.176836956_176836963dup, NC_000005.9:g.176836955_176836963dup, NC_000005.9:g.176836954_176836963dup, NC_000005.9:g.176836944_176836963T[30]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.176836953_176836963dup, NC_000005.9:g.176836952_176836963dup, NC_000005.9:g.176836951_176836963dup, NC_000005.9:g.176836950_176836963dup, NC_000005.9:g.176836949_176836963dup, NC_000005.9:g.176836948_176836963dup, NC_000005.9:g.176836947_176836963dup, NC_000005.9:g.176836946_176836963dup, NC_000005.9:g.176836945_176836963dup, NC_000005.9:g.176836944_176836963dup, NC_000005.9:g.176836963_176836964insTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.176836963_176836964insTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.176836963_176836964insTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.176836963_176836964insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.176836963_176836964insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.176836963_176836964insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.176836963_176836964insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.176836963_176836964insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.176836963_176836964insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007568.1:g.4626_4634del, NG_007568.1:g.4627_4634del, NG_007568.1:g.4628_4634del, NG_007568.1:g.4629_4634del, NG_007568.1:g.4630_4634del, NG_007568.1:g.4631_4634del, NG_007568.1:g.4632_4634del, NG_007568.1:g.4633_4634del, NG_007568.1:g.4634del, NG_007568.1:g.4634dup, NG_007568.1:g.4633_4634dup, NG_007568.1:g.4632_4634dup, NG_007568.1:g.4631_4634dup, NG_007568.1:g.4630_4634dup, NG_007568.1:g.4629_4634dup, NG_007568.1:g.4628_4634dup, NG_007568.1:g.4627_4634dup, NG_007568.1:g.4626_4634dup, NG_007568.1:g.4625_4634dup, NG_007568.1:g.4615_4634A[34]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_007568.1:g.4624_4634dup, NG_007568.1:g.4623_4634dup, NG_007568.1:g.4622_4634dup, NG_007568.1:g.4621_4634dup, NG_007568.1:g.4620_4634dup, NG_007568.1:g.4619_4634dup, NG_007568.1:g.4618_4634dup, NG_007568.1:g.4617_4634dup, NG_007568.1:g.4616_4634dup, NG_007568.1:g.4615_4634dup, NG_007568.1:g.4634_4635insAAAAAAAAAAAAAAAAAAAAA, NG_007568.1:g.4634_4635insAAAAAAAAAAAAAAAAAAAAAA, NG_007568.1:g.4634_4635insAAAAAAAAAAAAAAAAAAAAAAA, NG_007568.1:g.4634_4635insAAAAAAAAAAAAAAAAAAAAAAAA, NG_007568.1:g.4634_4635insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_007568.1:g.4634_4635insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_007568.1:g.4634_4635insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_007568.1:g.4634_4635insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_007568.1:g.4634_4635insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14911514646.

rs1491151464 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:177412424 (GRCh38)
5:176839425 (GRCh37)
Canonical SPDI:: NC_000005.10:177412423:CA:
Gene:: SLC34A1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.177412424_177412425del, NC_000005.9:g.176839425_176839426del, NG_007568.1:g.2152_2153del

Select item 14910269557.

rs1491026955 has merged into rs200381145 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 5:177408072 (GRCh38)
5:176835073 (GRCh37)
Canonical SPDI:: NC_000005.10:177408057:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:177408057:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:177408057:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:177408057:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: F12 (Varview), SLC34A1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.05167/31 (NorthernSweden)
-=0.2/8 (GENOME_DK)
HGVS:: NC_000005.10:g.177408072_177408073del, NC_000005.10:g.177408073del, NC_000005.10:g.177408073dup, NC_000005.10:g.177408072_177408073dup, NC_000005.9:g.176835073_176835074del, NC_000005.9:g.176835074del, NC_000005.9:g.176835074dup, NC_000005.9:g.176835073_176835074dup, NG_007568.1:g.6518_6519del, NG_007568.1:g.6519del, NG_007568.1:g.6519dup, NG_007568.1:g.6518_6519dup

Select item 14909976058.

rs1490997605 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:177393500 (GRCh38)
5:176820501 (GRCh37)
Canonical SPDI:: NC_000005.10:177393499:A:T
Gene:: SLC34A1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000005.10:g.177393500A>T, NC_000005.9:g.176820501A>T, NG_016223.1:g.14070A>T

Select item 14909256929.

rs1490925692 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:177395649 (GRCh38)
5:176822650 (GRCh37)
Canonical SPDI:: NC_000005.10:177395648:T:C
Gene:: SLC34A1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000038/10 (TOPMED)
C=0.00005/7 (GnomAD)
HGVS:: NC_000005.10:g.177395649T>C, NC_000005.9:g.176822650T>C, NG_016223.1:g.16219T>C

Select item 149088987010.

rs1490889870 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177395486 (GRCh38)
5:176822487 (GRCh37)
Canonical SPDI:: NC_000005.10:177395485:G:A
Gene:: SLC34A1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000005.10:g.177395486G>A, NC_000005.9:g.176822487G>A, NG_016223.1:g.16056G>A

Select item 149078194111.

rs1490781941 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:177404163 (GRCh38)
5:176831164 (GRCh37)
Canonical SPDI:: NC_000005.10:177404162:C:T
Gene:: F12 (Varview), SLC34A1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000005.10:g.177404163C>T, NC_000005.9:g.176831164C>T, NG_007568.1:g.10414G>A

Select item 149076613612.

rs1490766136 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:177404710 (GRCh38)
5:176831711 (GRCh37)
Canonical SPDI:: NC_000005.10:177404709:T:A,NC_000005.10:177404709:T:C
Gene:: F12 (Varview), SLC34A1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000005.10:g.177404710T>A, NC_000005.10:g.177404710T>C, NC_000005.9:g.176831711T>A, NC_000005.9:g.176831711T>C, NG_007568.1:g.9867A>T, NG_007568.1:g.9867A>G

Select item 149068658613.

rs1490686586 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177388015 (GRCh38)
5:176815016 (GRCh37)
Canonical SPDI:: NC_000005.10:177388014:G:A
Gene:: SLC34A1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_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_000005.10:g.177388015G>A, NC_000005.9:g.176815016G>A, NG_016223.1:g.8585G>A, NM_003052.5:c.666G>A, NM_003052.4:c.666G>A, NM_001167579.2:c.666G>A, NM_001167579.1:c.666G>A, XR_941113.3:n.767G>A, XR_941113.2:n.767G>A, XR_941113.1:n.713G>A, XM_017009773.2:c.666G>A, XM_017009773.1:c.666G>A, XM_017009775.2:c.666G>A, XM_017009775.1:c.666G>A, XM_024446191.1:c.666G>A

Select item 149066280214.

rs1490662802 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:177386338 (GRCh38)
5:176813339 (GRCh37)
Canonical SPDI:: NC_000005.10:177386337:A:C
Gene:: SLC34A1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.177386338A>C, NC_000005.9:g.176813339A>C, NG_016223.1:g.6908A>C, NM_003052.5:c.377A>C, NM_003052.4:c.377A>C, NM_001167579.2:c.377A>C, NM_001167579.1:c.377A>C, XR_941113.3:n.478A>C, XR_941113.2:n.478A>C, XR_941113.1:n.424A>C, XM_017009773.2:c.377A>C, XM_017009773.1:c.377A>C, XM_017009775.2:c.377A>C, XM_017009775.1:c.377A>C, XM_024446191.1:c.377A>C, NP_003043.3:p.Gln126Pro, NP_001161051.1:p.Gln126Pro, XP_016865262.1:p.Gln126Pro, XP_016865264.1:p.Gln126Pro, XP_024301959.1:p.Gln126Pro

Select item 149064964315.

rs1490649643 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:177388058 (GRCh38)
5:176815059 (GRCh37)
Canonical SPDI:: NC_000005.10:177388057:C:A,NC_000005.10:177388057:C:T
Gene:: SLC34A1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.177388058C>A, NC_000005.10:g.177388058C>T, NC_000005.9:g.176815059C>A, NC_000005.9:g.176815059C>T, NG_016223.1:g.8628C>A, NG_016223.1:g.8628C>T, NM_003052.5:c.709C>A, NM_003052.5:c.709C>T, NM_003052.4:c.709C>A, NM_003052.4:c.709C>T, NM_001167579.2:c.709C>A, NM_001167579.2:c.709C>T, NM_001167579.1:c.709C>A, NM_001167579.1:c.709C>T, XR_941113.3:n.810C>A, XR_941113.3:n.810C>T, XR_941113.2:n.810C>A, XR_941113.2:n.810C>T, XR_941113.1:n.756C>A, XR_941113.1:n.756C>T, XM_017009773.2:c.709C>A, XM_017009773.2:c.709C>T, XM_017009773.1:c.709C>A, XM_017009773.1:c.709C>T, XM_017009775.2:c.709C>A, XM_017009775.2:c.709C>T, XM_017009775.1:c.709C>A, XM_017009775.1:c.709C>T, XM_024446191.1:c.709C>A, XM_024446191.1:c.709C>T, NP_003043.3:p.Leu237Met, NP_001161051.1:p.Leu237Met, XP_016865262.1:p.Leu237Met, XP_016865264.1:p.Leu237Met, XP_024301959.1:p.Leu237Met

Select item 149054138316.

rs1490541383 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:177410583 (GRCh38)
5:176837584 (GRCh37)
Canonical SPDI:: NC_000005.10:177410582:G:A
Gene:: F12 (Varview), SLC34A1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000057/8 (GnomAD)
HGVS:: NC_000005.10:g.177410583G>A, NC_000005.9:g.176837584G>A, NG_007568.1:g.3994C>T

Select item 149043328917.

rs1490433289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:177396645 (GRCh38)
5:176823646 (GRCh37)
Canonical SPDI:: NC_000005.10:177396644:G:A,NC_000005.10:177396644:G:T
Gene:: SLC34A1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.177396645G>A, NC_000005.10:g.177396645G>T, NC_000005.9:g.176823646G>A, NC_000005.9:g.176823646G>T, NG_016223.1:g.17215G>A, NG_016223.1:g.17215G>T

Select item 149034887718.

rs1490348877 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 5:177400952 (GRCh38)
5:176827953 (GRCh37)
Canonical SPDI:: NC_000005.10:177400951:A:C,NC_000005.10:177400951:A:T
Gene:: SLC34A1 (Varview), PFN3 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.177400952A>C, NC_000005.10:g.177400952A>T, NC_000005.9:g.176827953A>C, NC_000005.9:g.176827953A>T, NG_007568.1:g.13625T>G, NG_007568.1:g.13625T>A

Select item 149018095419.

rs1490180954 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:177392468 (GRCh38)
5:176819469 (GRCh37)
Canonical SPDI:: NC_000005.10:177392467:T:A,NC_000005.10:177392467:T:C
Gene:: SLC34A1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/1 (GnomAD)
T=0.5/5 (SGDP_PRJ)
HGVS:: NC_000005.10:g.177392468T>A, NC_000005.10:g.177392468T>C, NC_000005.9:g.176819469T>A, NC_000005.9:g.176819469T>C, NG_016223.1:g.13038T>A, NG_016223.1:g.13038T>C

Select item 149010936820.

rs1490109368 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 5:177394717 (GRCh38)
5:176821718 (GRCh37)
Canonical SPDI:: NC_000005.10:177394716:C:A,NC_000005.10:177394716:C:G
Gene:: SLC34A1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.00523/87 (TOMMO)
HGVS:: NC_000005.10:g.177394717C>A, NC_000005.10:g.177394717C>G, NC_000005.9:g.176821718C>A, NC_000005.9:g.176821718C>G, NG_016223.1:g.15287C>A, NG_016223.1:g.15287C>G

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