SNP Links for Gene (Select 134187) - SNP

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Links from Gene

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Select item 14909628041.

rs1490962804 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 5:93742153 (GRCh38)
5:93077859 (GRCh37)
Canonical SPDI:: NC_000005.10:93742152:C:A,NC_000005.10:93742152:C:G,NC_000005.10:93742152:C:T
Gene:: FAM172A (Varview), POU5F2 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.93742153C>A, NC_000005.10:g.93742153C>G, NC_000005.10:g.93742153C>T, NC_000005.9:g.93077859C>A, NC_000005.9:g.93077859C>G, NC_000005.9:g.93077859C>T

Select item 14907952132.

rs1490795213 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:93741283 (GRCh38)
5:93076989 (GRCh37)
Canonical SPDI:: NC_000005.10:93741282:C:A,NC_000005.10:93741282:C:T
Gene:: FAM172A (Varview), POU5F2 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.93741283C>A, NC_000005.10:g.93741283C>T, NC_000005.9:g.93076989C>A, NC_000005.9:g.93076989C>T, NM_153216.2:c.281G>T, NM_153216.2:c.281G>A, NM_153216.1:c.281G>T, NM_153216.1:c.281G>A, NP_694948.1:p.Arg94Leu, NP_694948.1:p.Arg94His

Select item 14894600793.

rs1489460079 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:93741485 (GRCh38)
5:93077191 (GRCh37)
Canonical SPDI:: NC_000005.10:93741484:G:A,NC_000005.10:93741484:G:C
Gene:: FAM172A (Varview), POU5F2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.93741485G>A, NC_000005.10:g.93741485G>C, NC_000005.9:g.93077191G>A, NC_000005.9:g.93077191G>C, NM_153216.2:c.79C>T, NM_153216.2:c.79C>G, NM_153216.1:c.79C>T, NM_153216.1:c.79C>G, NP_694948.1:p.Leu27Val

Select item 14893294924.

rs1489329492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:93741669 (GRCh38)
5:93077375 (GRCh37)
Canonical SPDI:: NC_000005.10:93741668:C:A
Gene:: FAM172A (Varview), POU5F2 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.93741669C>A, NC_000005.9:g.93077375C>A

Select item 14890408845.

rs1489040884 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:93741384 (GRCh38)
5:93077090 (GRCh37)
Canonical SPDI:: NC_000005.10:93741383:C:T
Gene:: FAM172A (Varview), POU5F2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.93741384C>T, NC_000005.9:g.93077090C>T, NM_153216.2:c.180G>A, NM_153216.1:c.180G>A

Select item 14884812326.

rs1488481232 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:93741231 (GRCh38)
5:93076937 (GRCh37)
Canonical SPDI:: NC_000005.10:93741230:C:A
Gene:: FAM172A (Varview), POU5F2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.93741231C>A, NC_000005.9:g.93076937C>A, NM_153216.2:c.333G>T, NM_153216.1:c.333G>T

Select item 14884004517.

rs1488400451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:93740175 (GRCh38)
5:93075881 (GRCh37)
Canonical SPDI:: NC_000005.10:93740174:G:C
Gene:: FAM172A (Varview), POU5F2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.93740175G>C, NC_000005.9:g.93075881G>C, NM_153216.2:c.*402C>G

Select item 14877658798.

rs1487765879 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>A
Chromosome:: no mapping
Canonical SPDI:

Select item 14875483099.

rs1487548309 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:93741524 (GRCh38)
5:93077230 (GRCh37)
Canonical SPDI:: NC_000005.10:93741523:G:T
Gene:: FAM172A (Varview), POU5F2 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.93741524G>T, NC_000005.9:g.93077230G>T, NM_153216.2:c.40C>A, NM_153216.1:c.40C>A, NP_694948.1:p.Pro14Thr

Select item 148749607710.

rs1487496077 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:93740888 (GRCh38)
5:93076594 (GRCh37)
Canonical SPDI:: NC_000005.10:93740887:C:T
Gene:: FAM172A (Varview), POU5F2 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.93740888C>T, NC_000005.9:g.93076594C>T, NM_153216.2:c.676G>A, NM_153216.1:c.676G>A, NP_694948.1:p.Glu226Lys

Select item 148742993711.

rs1487429937 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:93740630 (GRCh38)
5:93076336 (GRCh37)
Canonical SPDI:: NC_000005.10:93740629:C:G,NC_000005.10:93740629:C:T
Gene:: FAM172A (Varview), POU5F2 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.93740630C>G, NC_000005.10:g.93740630C>T, NC_000005.9:g.93076336C>G, NC_000005.9:g.93076336C>T, NM_153216.2:c.934G>C, NM_153216.2:c.934G>A, NM_153216.1:c.934G>C, NM_153216.1:c.934G>A, NP_694948.1:p.Gly312Arg, NP_694948.1:p.Gly312Arg

Select item 148698821912.

rs1486988219 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:93740773 (GRCh38)
5:93076479 (GRCh37)
Canonical SPDI:: NC_000005.10:93740772:A:G
Gene:: FAM172A (Varview), POU5F2 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.93740773A>G, NC_000005.9:g.93076479A>G, NM_153216.2:c.791T>C, NM_153216.1:c.791T>C, NP_694948.1:p.Met264Thr

Select item 148656565313.

rs1486565653 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:93742393 (GRCh38)
5:93078099 (GRCh37)
Canonical SPDI:: NC_000005.10:93742392:T:A
Gene:: FAM172A (Varview), POU5F2 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.93742393T>A, NC_000005.9:g.93078099T>A

Select item 148579822014.

rs1485798220 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 5:93739989 (GRCh38)
5:93075695 (GRCh37)
Canonical SPDI:: NC_000005.10:93739988:T:A,NC_000005.10:93739988:T:G
Gene:: FAM172A (Varview), POU5F2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0.00011/3 (TOMMO)
A=0.00047/3 (1000Genomes)
A=0.01129/33 (KOREAN)
HGVS:: NC_000005.10:g.93739989T>A, NC_000005.10:g.93739989T>G, NC_000005.9:g.93075695T>A, NC_000005.9:g.93075695T>G, NM_153216.2:c.*588A>T, NM_153216.2:c.*588A>C

Select item 148267530815.

rs1482675308 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 5:93740457 (GRCh38)
5:93076163 (GRCh37)
Canonical SPDI:: NC_000005.10:93740453:CTTCTT:CTT
Gene:: FAM172A (Varview), POU5F2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTTCTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.93740454CTT[1], NC_000005.9:g.93076160CTT[1], NM_153216.2:c.*118AAG[1], NM_153216.1:c.*118AAG[1]

Select item 148128345516.

rs1481283455 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:93742967 (GRCh38)
5:93078673 (GRCh37)
Canonical SPDI:: NC_000005.10:93742966:C:G
Gene:: FAM172A (Varview), POU5F2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.93742967C>G, NC_000005.9:g.93078673C>G

Select item 148034584017.

rs1480345840 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:93741373 (GRCh38)
5:93077079 (GRCh37)
Canonical SPDI:: NC_000005.10:93741372:G:A
Gene:: FAM172A (Varview), POU5F2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_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_000005.10:g.93741373G>A, NC_000005.9:g.93077079G>A, NM_153216.2:c.191C>T, NM_153216.1:c.191C>T, NP_694948.1:p.Pro64Leu

Select item 148029567218.

rs1480295672 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 5:93742365 (GRCh38)
5:93078072 (GRCh37)
Canonical SPDI:: NC_000005.10:93742365:CCCCC:CCCCCC
Gene:: FAM172A (Varview), POU5F2 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCCCCC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.93742370dup, NC_000005.9:g.93078076dup

Select item 148007870419.

rs1480078704 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 5:93742149 (GRCh38)
5:93077855 (GRCh37)
Canonical SPDI:: NC_000005.10:93742148:CCCCC:CCCC
Gene:: FAM172A (Varview), POU5F2 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.93742153del, NC_000005.9:g.93077859del

Select item 147839734220.

rs1478397342 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:93740439 (GRCh38)
5:93076145 (GRCh37)
Canonical SPDI:: NC_000005.10:93740438:A:G
Gene:: FAM172A (Varview), POU5F2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.93740439A>G, NC_000005.9:g.93076145A>G, NM_153216.2:c.*138T>C, NM_153216.1:c.*138T>C