SNP Links for Gene (Select 101928881) - SNP

Links from Gene

Items: 1 to 20 of 1587

<< First< Prev

Page of 80

Next >Last >>

Select item 14912850121.

rs1491285012 has merged into rs10606451 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA [Show Flanks]
Chromosome:: 2:233011600 (GRCh38)
2:233876310 (GRCh37)
Canonical SPDI:: NC_000002.12:233011587:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:233011587:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:233011587:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:233011587:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:233011587:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:233011587:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: NGEF (Varview), LOC101928881 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.275/11 (GENOME_DK)
AA=0.4016/2011 (1000Genomes)
HGVS:: NC_000002.12:g.233011600_233011604del, NC_000002.12:g.233011601_233011604del, NC_000002.12:g.233011602_233011604del, NC_000002.12:g.233011603_233011604del, NC_000002.12:g.233011604del, NC_000002.12:g.233011604dup, NC_000002.11:g.233876310_233876314del, NC_000002.11:g.233876311_233876314del, NC_000002.11:g.233876312_233876314del, NC_000002.11:g.233876313_233876314del, NC_000002.11:g.233876314del, NC_000002.11:g.233876314dup

Select item 14907316062.

rs1490731606 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:233015938 (GRCh38)
2:233880648 (GRCh37)
Canonical SPDI:: NC_000002.12:233015937:G:A
Gene:: LOC101928881 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.233015938G>A, NC_000002.11:g.233880648G>A

Select item 14889359083.

rs1488935908 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:233011838 (GRCh38)
2:233876548 (GRCh37)
Canonical SPDI:: NC_000002.12:233011837:AT:
Gene:: NGEF (Varview), LOC101928881 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.233011838_233011839del, NC_000002.11:g.233876548_233876549del

Select item 14886422244.

rs1488642224 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:233015037 (GRCh38)
2:233879747 (GRCh37)
Canonical SPDI:: NC_000002.12:233015036:T:A,NC_000002.12:233015036:T:C
Gene:: NGEF (Varview), LOC101928881 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000423/5 (ALFA)
C=0.000087/9 (GnomAD)
C=0.001156/19 (TOMMO)
HGVS:: NC_000002.12:g.233015037T>A, NC_000002.12:g.233015037T>C, NC_000002.11:g.233879747T>A, NC_000002.11:g.233879747T>C

Select item 14883180865.

rs1488318086 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCAACCA>- [Show Flanks]
Chromosome:: 2:233014915 (GRCh38)
2:233879625 (GRCh37)
Canonical SPDI:: NC_000002.12:233014911:CCACCCAACCA:CCA
Gene:: NGEF (Varview), LOC101928881 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CCA=0.00008/1 (ALFA)
HGVS:: NC_000002.12:g.233014915_233014922del, NC_000002.11:g.233879625_233879632del

Select item 14881542096.

rs1488154209 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:233015246 (GRCh38)
2:233879956 (GRCh37)
Canonical SPDI:: NC_000002.12:233015245:T:A,NC_000002.12:233015245:T:C
Gene:: NGEF (Varview), LOC101928881 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.001889/22 (ALFA)
A=0.000004/1 (TOPMED)
C=0.001152/19 (TOMMO)
C=0.003775/11 (KOREAN)
C=0.013661/25 (Korea1K)
HGVS:: NC_000002.12:g.233015246T>A, NC_000002.12:g.233015246T>C, NC_000002.11:g.233879956T>A, NC_000002.11:g.233879956T>C

Select item 14875232717.

rs1487523271 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:233012340 (GRCh38)
2:233877050 (GRCh37)
Canonical SPDI:: NC_000002.12:233012339:A:G
Gene:: NGEF (Varview), LOC101928881 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_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_000002.12:g.233012340A>G, NC_000002.11:g.233877050A>G

Select item 14871216868.

rs1487121686 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:233012715 (GRCh38)
2:233877425 (GRCh37)
Canonical SPDI:: NC_000002.12:233012714:A:C,NC_000002.12:233012714:A:G
Gene:: NGEF (Varview), LOC101928881 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000043/6 (GnomAD)
HGVS:: NC_000002.12:g.233012715A>C, NC_000002.12:g.233012715A>G, NC_000002.11:g.233877425A>C, NC_000002.11:g.233877425A>G, NR_136325.1:n.102A>C, NR_136325.1:n.102A>G

Select item 14870061669.

rs1487006166 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 2:233016195 (GRCh38)
2:233880905 (GRCh37)
Canonical SPDI:: NC_000002.12:233016194:AA:
Gene:: LOC101928881 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.233016195_233016196del, NC_000002.11:g.233880905_233880906del

Select item 148674985410.

rs1486749854 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:233014484 (GRCh38)
2:233879194 (GRCh37)
Canonical SPDI:: NC_000002.12:233014483:G:A
Gene:: NGEF (Varview), LOC101928881 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.233014484G>A, NC_000002.11:g.233879194G>A

Select item 148673481011.

rs1486734810 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:233014073 (GRCh38)
2:233878783 (GRCh37)
Canonical SPDI:: NC_000002.12:233014072:G:T
Gene:: NGEF (Varview), LOC101928881 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.233014073G>T, NC_000002.11:g.233878783G>T

Select item 148577089212.

rs1485770892 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:233013960 (GRCh38)
2:233878670 (GRCh37)
Canonical SPDI:: NC_000002.12:233013959:G:A
Gene:: NGEF (Varview), LOC101928881 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.233013960G>A, NC_000002.11:g.233878670G>A

Select item 148567455313.

rs1485674553 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:233012780 (GRCh38)
2:233877490 (GRCh37)
Canonical SPDI:: NC_000002.12:233012779:T:C
Gene:: NGEF (Varview), LOC101928881 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.233012780T>C, NC_000002.11:g.233877490T>C, NR_136325.1:n.167T>C

Select item 148479108814.

rs1484791088 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:233013564 (GRCh38)
2:233878274 (GRCh37)
Canonical SPDI:: NC_000002.12:233013563:G:T
Gene:: NGEF (Varview), LOC101928881 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000177/3 (TOMMO)
HGVS:: NC_000002.12:g.233013564G>T, NC_000002.11:g.233878274G>T

Select item 148462106315.

rs1484621063 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:233011627 (GRCh38)
2:233876337 (GRCh37)
Canonical SPDI:: NC_000002.12:233011626:A:G
Gene:: NGEF (Varview), LOC101928881 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_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_000002.12:g.233011627A>G, NC_000002.11:g.233876337A>G

Select item 148346210916.

rs1483462109 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 2:233014857 (GRCh38)
2:233879567 (GRCh37)
Canonical SPDI:: NC_000002.12:233014856:T:
Gene:: NGEF (Varview), LOC101928881 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000002.12:g.233014857del, NC_000002.11:g.233879567del

Select item 148341407517.

rs1483414075 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:233014451 (GRCh38)
2:233879161 (GRCh37)
Canonical SPDI:: NC_000002.12:233014450:G:A
Gene:: NGEF (Varview), LOC101928881 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.233014451G>A, NC_000002.11:g.233879161G>A

Select item 148290580518.

rs1482905805 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:233014669 (GRCh38)
2:233879379 (GRCh37)
Canonical SPDI:: NC_000002.12:233014668:C:T
Gene:: NGEF (Varview), LOC101928881 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.233014669C>T, NC_000002.11:g.233879379C>T

Select item 148285581719.

rs1482855817 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:233012372 (GRCh38)
2:233877082 (GRCh37)
Canonical SPDI:: NC_000002.12:233012371:C:A,NC_000002.12:233012371:C:T
Gene:: NGEF (Varview), LOC101928881 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_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)
A=0.000177/3 (TOMMO)
HGVS:: NC_000002.12:g.233012372C>A, NC_000002.12:g.233012372C>T, NC_000002.11:g.233877082C>A, NC_000002.11:g.233877082C>T

Select item 148249707420.

rs1482497074 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:233014797 (GRCh38)
2:233879507 (GRCh37)
Canonical SPDI:: NC_000002.12:233014796:A:C
Gene:: NGEF (Varview), LOC101928881 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00969/115 (ALFA)
C=0.00319/53 (TOMMO)
C=0.01133/33 (KOREAN)
HGVS:: NC_000002.12:g.233014797A>C, NC_000002.11:g.233879507A>C

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1587

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity