SNP Links for Gene (Select 3422) - SNP

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Select item 14915573521.

rs1491557352 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 10:1046541 (GRCh38)
10:1092481 (GRCh37)
Canonical SPDI:: NC_000010.11:1046540:CC:
Gene:: IDI1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000018/2 (GnomAD)
HGVS:: NC_000010.11:g.1046541_1046542del, NC_000010.10:g.1092481_1092482del

Select item 14915392202.

rs1491539220 [Homo sapiens]

Variant type:: INS
Alleles:: ->AG [Show Flanks]
Chromosome:: 10:1046541 (GRCh38)
10:1092482 (GRCh37)
Canonical SPDI:: NC_000010.11:1046541::AG
Gene:: IDI1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: AG=0.000618/73 (GnomAD)
AG=0.002026/34 (TOMMO)
AG=0.002732/5 (Korea1K)
HGVS:: NC_000010.11:g.1046541_1046542insAG, NC_000010.10:g.1092481_1092482insAG

Select item 14913361473.

rs1491336147 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TT [Show Flanks]
Chromosome:: 10:1049464 (GRCh38)
10:1095405 (GRCh37)
Canonical SPDI:: NC_000010.11:1049464::T,NC_000010.11:1049464::TT
Gene:: IDI1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.00064/18 (GnomAD)
HGVS:: NC_000010.11:g.1049464_1049465insT, NC_000010.11:g.1049464_1049465insTT, NC_000010.10:g.1095404_1095405insT, NC_000010.10:g.1095404_1095405insTT

Select item 14910345224.

rs1491034522 has merged into rs3053722 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 10:1049669 (GRCh38)
10:1095609 (GRCh37)
Canonical SPDI:: NC_000010.11:1049661:TTTTTTTTTTTT:TTTTTTT,NC_000010.11:1049661:TTTTTTTTTTTT:TTTTTTTT,NC_000010.11:1049661:TTTTTTTTTTTT:TTTTTTTTT,NC_000010.11:1049661:TTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:1049661:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:1049661:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:1049661:TTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: IDI1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
T=0.4844/1961 (1000Genomes)
HGVS:: NC_000010.11:g.1049669_1049673del, NC_000010.11:g.1049670_1049673del, NC_000010.11:g.1049671_1049673del, NC_000010.11:g.1049672_1049673del, NC_000010.11:g.1049673del, NC_000010.11:g.1049673dup, NC_000010.11:g.1049672_1049673dup, NC_000010.10:g.1095609_1095613del, NC_000010.10:g.1095610_1095613del, NC_000010.10:g.1095611_1095613del, NC_000010.10:g.1095612_1095613del, NC_000010.10:g.1095613del, NC_000010.10:g.1095613dup, NC_000010.10:g.1095612_1095613dup

Select item 14907806005.

rs1490780600 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:1043714 (GRCh38)
10:1089654 (GRCh37)
Canonical SPDI:: NC_000010.11:1043713:G:A
Gene:: IDI1 (Varview), IDI2-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.1043714G>A, NC_000010.10:g.1089654G>A, NR_027709.1:n.818G>A, NR_027708.1:n.734G>A, NR_024628.1:n.601G>A, NR_024629.1:n.438G>A, NM_018470.1:c.257G>A

Select item 14906997096.

rs1490699709 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:1045612 (GRCh38)
10:1091552 (GRCh37)
Canonical SPDI:: NC_000010.11:1045611:G:A
Gene:: IDI1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.1045612G>A, NC_000010.10:g.1091552G>A

Select item 14906840827.

rs1490684082 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 10:1048681 (GRCh38)
10:1094622 (GRCh37)
Canonical SPDI:: NC_000010.11:1048681:G:GG
Gene:: IDI1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000010.11:g.1048682dup, NC_000010.10:g.1094622dup, NM_001317956.2:c.-447dup, NM_001317956.1:c.-447dup, NM_001317957.2:c.-364dup, NM_001317957.1:c.-364dup

Select item 14906076818.

rs1490607681 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:1051565 (GRCh38)
10:1097505 (GRCh37)
Canonical SPDI:: NC_000010.11:1051564:C:T
Gene:: IDI1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.1051565C>T, NC_000010.10:g.1097505C>T

Select item 14905576879.

rs1490557687 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:1044863 (GRCh38)
10:1090803 (GRCh37)
Canonical SPDI:: NC_000010.11:1044862:G:A
Gene:: IDI1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.1044863G>A, NC_000010.10:g.1090803G>A

Select item 149053640510.

rs1490536405 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACCCACACTCA>- [Show Flanks]
Chromosome:: 10:1050705 (GRCh38)
10:1096645 (GRCh37)
Canonical SPDI:: NC_000010.11:1050698:CACTCACACACCCACACTCA:CACTCA
Gene:: IDI1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACTCA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.1050705_1050718del, NC_000010.10:g.1096645_1096658del

Select item 149052759111.

rs1490527591 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:1046981 (GRCh38)
10:1092921 (GRCh37)
Canonical SPDI:: NC_000010.11:1046980:C:T
Gene:: IDI1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.45793/5432 (ALFA)
T=0.05882/2 (Korea1K)
T=0.10214/101 (TOMMO)
T=0.34887/217 (KOREAN)
HGVS:: NC_000010.11:g.1046981C>T, NC_000010.10:g.1092921C>T

Select item 149035029812.

rs1490350298 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:1058232 (GRCh38)
10:1104172 (GRCh37)
Canonical SPDI:: NC_000010.11:1058231:C:A
Gene:: IDI1 (Varview), WDR37 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.1058232C>A, NC_000010.10:g.1104172C>A, NM_018543.1:c.-85C>A

Select item 149034621313.

rs1490346213 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:1057350 (GRCh38)
10:1103290 (GRCh37)
Canonical SPDI:: NC_000010.11:1057349:G:T
Gene:: IDI1 (Varview), WDR37 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.1057350G>T, NC_000010.10:g.1103290G>T

Select item 149011832914.

rs1490118329 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:1051098 (GRCh38)
10:1097038 (GRCh37)
Canonical SPDI:: NC_000010.11:1051097:A:G
Gene:: IDI1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,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_000010.11:g.1051098A>G, NC_000010.10:g.1097038A>G

Select item 149004587115.

rs1490045871 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:1050271 (GRCh38)
10:1096211 (GRCh37)
Canonical SPDI:: NC_000010.11:1050270:C:T
Gene:: IDI1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.1050271C>T, NC_000010.10:g.1096211C>T

Select item 148980261916.

rs1489802619 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:1048934 (GRCh38)
10:1094874 (GRCh37)
Canonical SPDI:: NC_000010.11:1048933:G:A
Gene:: IDI1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000010.11:g.1048934G>A, NC_000010.10:g.1094874G>A, NM_004508.4:c.70C>T, NM_004508.3:c.70C>T, NM_004508.2:c.70C>T, NR_134301.1:n.433C>T, NP_004499.2:p.Arg24Cys

Select item 148935342317.

rs1489353423 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:1042322 (GRCh38)
10:1088262 (GRCh37)
Canonical SPDI:: NC_000010.11:1042321:C:T
Gene:: IDI1 (Varview), IDI2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.1042322C>T, NC_000010.10:g.1088262C>T

Select item 148930922418.

rs1489309224 [Homo sapiens]

Variant type:: INS
Alleles:: ->TC [Show Flanks]
Chromosome:: 10:1049463 (GRCh38)
10:1095404 (GRCh37)
Canonical SPDI:: NC_000010.11:1049463::TC
Gene:: IDI1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TC=0.00008/1 (ALFA)
HGVS:: NC_000010.11:g.1049463_1049464insTC, NC_000010.10:g.1095403_1095404insTC

Select item 148929223619.

rs1489292236 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:1044919 (GRCh38)
10:1090859 (GRCh37)
Canonical SPDI:: NC_000010.11:1044918:C:A
Gene:: IDI1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.1044919C>A, NC_000010.10:g.1090859C>A

Select item 148873992820.

rs1488739928 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:1041624 (GRCh38)
10:1087564 (GRCh37)
Canonical SPDI:: NC_000010.11:1041623:C:T
Gene:: IDI1 (Varview), IDI2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.1041624C>T, NC_000010.10:g.1087564C>T

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