SNP Links for Gene (Select 56623) - SNP

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Select item 14913006151.

rs1491300615 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 9:136433158 (GRCh38)
9:139327610 (GRCh37)
Canonical SPDI:: NC_000009.12:136433156:GAG:G
Gene:: INPP5E (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: -=0./0 (GnomAD)
-=0.00015/12 (ExAC)
HGVS:: NC_000009.12:g.136433158_136433159del, NC_000009.11:g.139327610_139327611del, NG_016126.1:g.11647_11648del, NM_019892.6:c.1156_1157del, NM_019892.5:c.1156_1157del, NM_019892.4:c.1156_1157del, NM_001318502.2:c.1156_1157del, NM_001318502.1:c.1156_1157del, XR_929828.3:n.1582_1583del, XR_929828.2:n.1598_1599del, XR_929828.1:n.1596_1597del, XM_017014926.2:c.1156_1157del, XM_017014926.1:c.1156_1157del, XM_047423603.1:c.1156_1157del, NP_063945.2:p.Ser386fs, NP_001305431.1:p.Ser386fs, XP_016870415.1:p.Ser386fs, XP_047279559.1:p.Ser386fs

Select item 14906978692.

rs1490697869 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136430052 (GRCh38)
9:139324504 (GRCh37)
Canonical SPDI:: NC_000009.12:136430051:C:T
Gene:: INPP5E (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000271/5 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000038/5 (GnomAD)
T=0.001138/5 (Estonian)
HGVS:: NC_000009.12:g.136430052C>T, NC_000009.11:g.139324504C>T, NG_016126.1:g.14753G>A

Select item 14897170813.

rs1489717081 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136440799 (GRCh38)
9:139335251 (GRCh37)
Canonical SPDI:: NC_000009.12:136440798:G:A
Gene:: SEC16A (Varview), INPP5E (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_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_000009.12:g.136440799G>A, NC_000009.11:g.139335251G>A, NG_016126.1:g.4006C>T, XM_011519260.3:c.*956C>T, XM_011519260.2:c.*956C>T, XM_011519260.1:c.*956C>T, XM_011519247.3:c.*956C>T, XM_011519247.2:c.*956C>T, XM_011519247.1:c.*956C>T, XM_005266134.3:c.*956C>T, XM_005266134.2:c.*956C>T, XM_005266134.1:c.*956C>T, XM_011519259.3:c.*956C>T, XM_011519259.2:c.*956C>T, XM_011519259.1:c.*956C>T, NM_014866.2:c.*956C>T, NM_014866.1:c.*956C>T, NM_001276418.2:c.*956C>T, NM_001276418.1:c.*956C>T, XM_011519249.2:c.*956C>T, XM_011519249.1:c.*956C>T, XM_011519252.2:c.*956C>T, XM_011519252.1:c.*956C>T, XM_011519256.2:c.*956C>T, XM_011519256.1:c.*956C>T, XM_011519257.2:c.*956C>T, XM_011519257.1:c.*956C>T, XM_011519262.2:c.*956C>T, XM_011519262.1:c.*956C>T, XM_011519263.2:c.*956C>T, XM_011519263.1:c.*956C>T, XM_047424226.1:c.*1386C>T, XM_047424227.1:c.*1386C>T, XM_047424230.1:c.*1386C>T, XM_047424232.1:c.*1386C>T, XM_047424237.1:c.*1386C>T, XM_047424238.1:c.*1386C>T, XM_047424241.1:c.*1386C>T, XM_047424247.1:c.*1386C>T, XM_047424251.1:c.*1386C>T, XM_047424225.1:c.*956C>T, XM_047424228.1:c.*956C>T, XM_047424229.1:c.*956C>T, XM_047424231.1:c.*956C>T, XM_047424233.1:c.*956C>T, XM_047424234.1:c.*956C>T, XM_047424236.1:c.*956C>T, XM_047424235.1:c.*956C>T, XM_047424239.1:c.*956C>T, XM_047424240.1:c.*956C>T, XM_047424246.1:c.*1386C>T, XM_047424253.1:c.*956C>T, XM_047424258.1:c.*1386C>T, XM_047424242.1:c.*956C>T, XM_047424243.1:c.*956C>T, XM_047424244.1:c.*956C>T, XM_047424245.1:c.*956C>T, XM_047424248.1:c.*956C>T, XM_047424249.1:c.*956C>T, XM_047424250.1:c.*956C>T, XM_047424254.1:c.*956C>T, XM_047424252.1:c.*956C>T, XM_047424255.1:c.*956C>T, XM_047424256.1:c.*956C>T, XM_047424257.1:c.*956C>T, XM_047424259.1:c.*956C>T, XM_047424261.1:c.*956C>T, XM_047424260.1:c.*956C>T, XM_047424262.1:c.*956C>T, XM_047424263.1:c.*956C>T, XM_047424264.1:c.*956C>T

Select item 14896462034.

rs1489646203 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136428980 (GRCh38)
9:139323432 (GRCh37)
Canonical SPDI:: NC_000009.12:136428979:C:T
Gene:: INPP5E (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_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_000009.12:g.136428980C>T, NC_000009.11:g.139323432C>T, NG_016126.1:g.15825G>A, NM_019892.6:c.*695G>A, NM_019892.5:c.*695G>A, NM_019892.4:c.*695G>A, NM_001318502.2:c.*695G>A, NM_001318502.1:c.*695G>A, XM_017014926.2:c.*774G>A, XM_017014926.1:c.*774G>A, XM_047423603.1:c.*774G>A

Select item 14894718685.

rs1489471868 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:136437573 (GRCh38)
9:139332025 (GRCh37)
Canonical SPDI:: NC_000009.12:136437572:C:G
Gene:: INPP5E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.136437573C>G, NC_000009.11:g.139332025C>G, NG_016126.1:g.7232G>C

Select item 14891502396.

rs1489150239 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATGGACGGT [Show Flanks]
Chromosome:: 9:136439417 (GRCh38)
9:139333870 (GRCh37)
Canonical SPDI:: NC_000009.12:136439417:ATGGACGGT:ATGGACGGTATGGACGGT
Gene:: INPP5E (Varview)
Functional Consequence:: 5_prime_UTR_variant,inframe_insertion,non_coding_transcript_variant,initiator_codon_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: ATGGACGGTATGGACGGT=0./0 (ALFA)
ATGGACGGT=0.000015/4 (TOPMED)
ATGGACGGT=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.136439418_136439426dup, NC_000009.11:g.139333870_139333878dup, NG_016126.1:g.5379_5387dup, NM_019892.6:c.-7_2dup, NM_019892.5:c.-7_2dup, NM_019892.4:c.-7_2dup, NM_001318502.2:c.-7_2dup, NM_001318502.1:c.-7_2dup, XR_929828.3:n.420_428dup, XR_929828.2:n.436_444dup, XR_929828.1:n.434_442dup, XM_017014926.2:c.-7_2dup, XM_017014926.1:c.-7_2dup, XM_047423603.1:c.-7_2dup

Select item 14888809327.

rs1488880932 [Homo sapiens]

Variant type:: DEL
Alleles:: CCGG>- [Show Flanks]
Chromosome:: 9:136434275 (GRCh38)
9:139328727 (GRCh37)
Canonical SPDI:: NC_000009.12:136434274:CCGG:
Gene:: INPP5E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136434275_136434278del, NC_000009.11:g.139328727_139328730del, NG_016126.1:g.10527_10530del

Select item 14886193898.

rs1488619389 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCCCCCCACCCGC>- [Show Flanks]
Chromosome:: 9:136431215 (GRCh38)
9:139325667 (GRCh37)
Canonical SPDI:: NC_000009.12:136431213:CTCCCCCCACCCGC:C
Gene:: INPP5E (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00017/2 (ALFA)
HGVS:: NC_000009.12:g.136431215_136431227del, NC_000009.11:g.139325667_139325679del, NG_016126.1:g.13579_13591del

Select item 14886069709.

rs1488606970 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:136433244 (GRCh38)
9:139327696 (GRCh37)
Canonical SPDI:: NC_000009.12:136433243:C:A
Gene:: INPP5E (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000009.12:g.136433244C>A, NC_000009.11:g.139327696C>A, NG_016126.1:g.11561G>T, NM_019892.6:c.1070G>T, NM_019892.5:c.1070G>T, NM_019892.4:c.1070G>T, NM_001318502.2:c.1070G>T, NM_001318502.1:c.1070G>T, XR_929828.3:n.1496G>T, XR_929828.2:n.1512G>T, XR_929828.1:n.1510G>T, XM_017014926.2:c.1070G>T, XM_017014926.1:c.1070G>T, XM_047423603.1:c.1070G>T, NP_063945.2:p.Gly357Val, NP_001305431.1:p.Gly357Val, XP_016870415.1:p.Gly357Val, XP_047279559.1:p.Gly357Val

Select item 148845254610.

rs1488452546 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:136439580 (GRCh38)
9:139334032 (GRCh37)
Canonical SPDI:: NC_000009.12:136439579:A:T
Gene:: INPP5E (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000009.12:g.136439580A>T, NC_000009.11:g.139334032A>T, NG_016126.1:g.5225T>A, NM_019892.6:c.-161T>A, NM_019892.5:c.-161T>A, NM_019892.4:c.-161T>A, NM_001318502.2:c.-161T>A, NM_001318502.1:c.-161T>A, XR_929828.3:n.266T>A, XR_929828.2:n.282T>A, XR_929828.1:n.280T>A, XM_017014926.2:c.-161T>A, XM_017014926.1:c.-161T>A, XM_047423603.1:c.-161T>A

Select item 148839434411.

rs1488394344 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:136429238 (GRCh38)
9:139323690 (GRCh37)
Canonical SPDI:: NC_000009.12:136429237:T:C
Gene:: INPP5E (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_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_000009.12:g.136429238T>C, NC_000009.11:g.139323690T>C, NG_016126.1:g.15567A>G, NM_019892.6:c.*437A>G, NM_019892.5:c.*437A>G, NM_019892.4:c.*437A>G, NM_001318502.2:c.*437A>G, NM_001318502.1:c.*437A>G, XM_017014926.2:c.*516A>G, XM_017014926.1:c.*516A>G, XM_047423603.1:c.*516A>G

Select item 148826364612.

rs1488263646 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:136434296 (GRCh38)
9:139328748 (GRCh37)
Canonical SPDI:: NC_000009.12:136434295:G:C
Gene:: INPP5E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136434296G>C, NC_000009.11:g.139328748G>C, NG_016126.1:g.10509C>G

Select item 148818498113.

rs1488184981 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 9:136440579 (GRCh38)
9:139335032 (GRCh37)
Canonical SPDI:: NC_000009.12:136440579:A:AA
Gene:: SEC16A (Varview), INPP5E (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.136440580dup, NC_000009.11:g.139335032dup, NG_016126.1:g.4225dup, XM_011519260.3:c.*1175dup, XM_011519260.2:c.*1175dup, XM_011519260.1:c.*1175dup, XM_011519247.3:c.*1175dup, XM_011519247.2:c.*1175dup, XM_011519247.1:c.*1175dup, XM_005266134.3:c.*1175dup, XM_005266134.2:c.*1175dup, XM_005266134.1:c.*1175dup, XM_011519259.3:c.*1175dup, XM_011519259.2:c.*1175dup, XM_011519259.1:c.*1175dup, NM_014866.2:c.*1175dup, NM_014866.1:c.*1175dup, NM_001276418.2:c.*1175dup, NM_001276418.1:c.*1175dup, XM_011519249.2:c.*1175dup, XM_011519249.1:c.*1175dup, XM_011519252.2:c.*1175dup, XM_011519252.1:c.*1175dup, XM_011519256.2:c.*1175dup, XM_011519256.1:c.*1175dup, XM_011519257.2:c.*1175dup, XM_011519257.1:c.*1175dup, XM_011519262.2:c.*1175dup, XM_011519262.1:c.*1175dup, XM_011519263.2:c.*1175dup, XM_011519263.1:c.*1175dup, XM_047424226.1:c.*1605dup, XM_047424227.1:c.*1605dup, XM_047424230.1:c.*1605dup, XM_047424232.1:c.*1605dup, XM_047424237.1:c.*1605dup, XM_047424238.1:c.*1605dup, XM_047424241.1:c.*1605dup, XM_047424247.1:c.*1605dup, XM_047424251.1:c.*1605dup, XM_047424225.1:c.*1175dup, XM_047424228.1:c.*1175dup, XM_047424229.1:c.*1175dup, XM_047424231.1:c.*1175dup, XM_047424233.1:c.*1175dup, XM_047424234.1:c.*1175dup, XM_047424236.1:c.*1175dup, XM_047424235.1:c.*1175dup, XM_047424239.1:c.*1175dup, XM_047424240.1:c.*1175dup, XM_047424246.1:c.*1605dup, XM_047424253.1:c.*1175dup, XM_047424258.1:c.*1605dup, XM_047424242.1:c.*1175dup, XM_047424243.1:c.*1175dup, XM_047424244.1:c.*1175dup, XM_047424245.1:c.*1175dup, XM_047424248.1:c.*1175dup, XM_047424249.1:c.*1175dup, XM_047424250.1:c.*1175dup, XM_047424254.1:c.*1175dup, XM_047424252.1:c.*1175dup, XM_047424255.1:c.*1175dup, XM_047424256.1:c.*1175dup, XM_047424257.1:c.*1175dup, XM_047424259.1:c.*1175dup, XM_047424261.1:c.*1175dup, XM_047424260.1:c.*1175dup, XM_047424262.1:c.*1175dup, XM_047424263.1:c.*1175dup, XM_047424264.1:c.*1175dup

Select item 148796598114.

rs1487965981 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136428903 (GRCh38)
9:139323355 (GRCh37)
Canonical SPDI:: NC_000009.12:136428902:G:A
Gene:: INPP5E (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.136428903G>A, NC_000009.11:g.139323355G>A, NG_016126.1:g.15902C>T, NM_019892.6:c.*772C>T, NM_019892.5:c.*772C>T, NM_019892.4:c.*772C>T, NM_001318502.2:c.*772C>T, NM_001318502.1:c.*772C>T, XM_017014926.2:c.*851C>T, XM_017014926.1:c.*851C>T, XM_047423603.1:c.*851C>T

Select item 148782490015.

rs1487824900 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:136440675 (GRCh38)
9:139335127 (GRCh37)
Canonical SPDI:: NC_000009.12:136440674:C:G
Gene:: SEC16A (Varview), INPP5E (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.136440675C>G, NC_000009.11:g.139335127C>G, NG_016126.1:g.4130G>C, XM_011519260.3:c.*1080G>C, XM_011519260.2:c.*1080G>C, XM_011519260.1:c.*1080G>C, XM_011519247.3:c.*1080G>C, XM_011519247.2:c.*1080G>C, XM_011519247.1:c.*1080G>C, XM_005266134.3:c.*1080G>C, XM_005266134.2:c.*1080G>C, XM_005266134.1:c.*1080G>C, XM_011519259.3:c.*1080G>C, XM_011519259.2:c.*1080G>C, XM_011519259.1:c.*1080G>C, NM_014866.2:c.*1080G>C, NM_014866.1:c.*1080G>C, NM_001276418.2:c.*1080G>C, NM_001276418.1:c.*1080G>C, XM_011519249.2:c.*1080G>C, XM_011519249.1:c.*1080G>C, XM_011519252.2:c.*1080G>C, XM_011519252.1:c.*1080G>C, XM_011519256.2:c.*1080G>C, XM_011519256.1:c.*1080G>C, XM_011519257.2:c.*1080G>C, XM_011519257.1:c.*1080G>C, XM_011519262.2:c.*1080G>C, XM_011519262.1:c.*1080G>C, XM_011519263.2:c.*1080G>C, XM_011519263.1:c.*1080G>C, XM_047424226.1:c.*1510G>C, XM_047424227.1:c.*1510G>C, XM_047424230.1:c.*1510G>C, XM_047424232.1:c.*1510G>C, XM_047424237.1:c.*1510G>C, XM_047424238.1:c.*1510G>C, XM_047424241.1:c.*1510G>C, XM_047424247.1:c.*1510G>C, XM_047424251.1:c.*1510G>C, XM_047424225.1:c.*1080G>C, XM_047424228.1:c.*1080G>C, XM_047424229.1:c.*1080G>C, XM_047424231.1:c.*1080G>C, XM_047424233.1:c.*1080G>C, XM_047424234.1:c.*1080G>C, XM_047424236.1:c.*1080G>C, XM_047424235.1:c.*1080G>C, XM_047424239.1:c.*1080G>C, XM_047424240.1:c.*1080G>C, XM_047424246.1:c.*1510G>C, XM_047424253.1:c.*1080G>C, XM_047424258.1:c.*1510G>C, XM_047424242.1:c.*1080G>C, XM_047424243.1:c.*1080G>C, XM_047424244.1:c.*1080G>C, XM_047424245.1:c.*1080G>C, XM_047424248.1:c.*1080G>C, XM_047424249.1:c.*1080G>C, XM_047424250.1:c.*1080G>C, XM_047424254.1:c.*1080G>C, XM_047424252.1:c.*1080G>C, XM_047424255.1:c.*1080G>C, XM_047424256.1:c.*1080G>C, XM_047424257.1:c.*1080G>C, XM_047424259.1:c.*1080G>C, XM_047424261.1:c.*1080G>C, XM_047424260.1:c.*1080G>C, XM_047424262.1:c.*1080G>C, XM_047424263.1:c.*1080G>C, XM_047424264.1:c.*1080G>C

Select item 148770692216.

rs1487706922 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136434485 (GRCh38)
9:139328937 (GRCh37)
Canonical SPDI:: NC_000009.12:136434484:C:T
Gene:: INPP5E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000009.12:g.136434485C>T, NC_000009.11:g.139328937C>T, NG_016126.1:g.10320G>A

Select item 148768358817.

rs1487683588 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 9:136435082 (GRCh38)
9:139329534 (GRCh37)
Canonical SPDI:: NC_000009.12:136435081:T:
Gene:: INPP5E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136435082del, NC_000009.11:g.139329534del, NG_016126.1:g.9723del

Select item 148753641618.

rs1487536416 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136438330 (GRCh38)
9:139332782 (GRCh37)
Canonical SPDI:: NC_000009.12:136438329:G:A
Gene:: INPP5E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136438330G>A, NC_000009.11:g.139332782G>A, NG_016126.1:g.6475C>T

Select item 148744544319.

rs1487445443 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136437491 (GRCh38)
9:139331943 (GRCh37)
Canonical SPDI:: NC_000009.12:136437490:G:A
Gene:: INPP5E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000009.12:g.136437491G>A, NC_000009.11:g.139331943G>A, NG_016126.1:g.7314C>T

Select item 148735592820.

rs1487355928 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136435429 (GRCh38)
9:139329881 (GRCh37)
Canonical SPDI:: NC_000009.12:136435428:C:T
Gene:: INPP5E (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.136435429C>T, NC_000009.11:g.139329881C>T, NG_016126.1:g.9376G>A

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