SNP Links for Gene (Select 145788) - SNP

Links from Gene

Items: 1 to 20 of 3312

<< First< Prev

Page of 166

Next >Last >>

Select item 14915791711.

rs1491579171 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 15:55416120 (GRCh38)
15:55708319 (GRCh37)
Canonical SPDI:: NC_000015.10:55416120::G
Gene:: PIERCE2 (Varview), DNAAF4-CCPG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000025/3 (GnomAD)
HGVS:: NC_000015.10:g.55416120_55416121insG, NC_000015.9:g.55708318_55708319insG, NG_021213.1:g.97114_97115insC

Select item 14914675872.

rs1491467587 has merged into rs139531885 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 15:55416105 (GRCh38)
15:55708303 (GRCh37)
Canonical SPDI:: NC_000015.10:55416096:TATATATATA:TATATATA,NC_000015.10:55416096:TATATATATA:TATATATATATA
Gene:: PIERCE2 (Varview), DNAAF4-CCPG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATA=0.0168/251 (ALFA)
-=0.05/2 (GENOME_DK)
-=0.05809/260 (Estonian)
-=0.06/36 (NorthernSweden)
-=0.06149/237 (ALSPAC)
-=0.0658/244 (TWINSUK)
HGVS:: NC_000015.10:g.55416097TA[4], NC_000015.10:g.55416097TA[6], NC_000015.9:g.55708295TA[4], NC_000015.9:g.55708295TA[6], NG_021213.1:g.97129TA[4], NG_021213.1:g.97129TA[6]

Select item 14910680323.

rs1491068032 has merged into rs33932364 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 15:55407240 (GRCh38)
15:55699438 (GRCh37)
Canonical SPDI:: NC_000015.10:55407228:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:55407228:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:55407228:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:55407228:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:55407228:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:55407228:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:55407228:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: CCPG1 (Varview), PIERCE2 (Varview), DNAAF4-CCPG1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.477/2389 (1000Genomes)
HGVS:: NC_000015.10:g.55407240_55407242del, NC_000015.10:g.55407241_55407242del, NC_000015.10:g.55407242del, NC_000015.10:g.55407242dup, NC_000015.10:g.55407241_55407242dup, NC_000015.10:g.55407240_55407242dup, NC_000015.10:g.55407239_55407242dup, NC_000015.9:g.55699438_55699440del, NC_000015.9:g.55699439_55699440del, NC_000015.9:g.55699440del, NC_000015.9:g.55699440dup, NC_000015.9:g.55699439_55699440dup, NC_000015.9:g.55699438_55699440dup, NC_000015.9:g.55699437_55699440dup

Select item 14909594294.

rs1490959429 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:55408247 (GRCh38)
15:55700445 (GRCh37)
Canonical SPDI:: NC_000015.10:55408246:G:A
Gene:: CCPG1 (Varview), PIERCE2 (Varview), DNAAF4-CCPG1 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.55408247G>A, NC_000015.9:g.55700445G>A, NM_004748.6:c.-410C>T, NM_004748.5:c.-410C>T, NM_004748.4:c.-410C>T, NM_020739.5:c.-36C>T, NM_020739.4:c.-36C>T, NM_020739.3:c.-36C>T, NM_001204450.2:c.-36C>T, NM_001204450.1:c.-36C>T, NM_001204451.2:c.-36C>T, NM_001204451.1:c.-36C>T

Select item 14909367725.

rs1490936772 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:55410696 (GRCh38)
15:55702894 (GRCh37)
Canonical SPDI:: NC_000015.10:55410695:G:A
Gene:: PIERCE2 (Varview), DNAAF4-CCPG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.55410696G>A, NC_000015.9:g.55702894G>A

Select item 14907649776.

rs1490764977 has merged into rs10549986 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:55412106 (GRCh38)
15:55704304 (GRCh37)
Canonical SPDI:: NC_000015.10:55412093:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:55412093:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:55412093:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:55412093:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:55412093:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:55412093:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:55412093:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:55412093:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:55412093:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:55412093:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:55412093:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:55412093:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:55412093:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:55412093:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:55412093:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:55412093:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:55412093:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:55412093:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:55412093:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:55412093:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:55412093:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:55412093:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:55412093:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:55412093:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:55412093:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:55412093:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:55412093:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:55412093:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PIERCE2 (Varview), DNAAF4-CCPG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000015.10:g.55412106_55412118del, NC_000015.10:g.55412107_55412118del, NC_000015.10:g.55412108_55412118del, NC_000015.10:g.55412109_55412118del, NC_000015.10:g.55412110_55412118del, NC_000015.10:g.55412111_55412118del, NC_000015.10:g.55412112_55412118del, NC_000015.10:g.55412113_55412118del, NC_000015.10:g.55412114_55412118del, NC_000015.10:g.55412115_55412118del, NC_000015.10:g.55412116_55412118del, NC_000015.10:g.55412117_55412118del, NC_000015.10:g.55412118del, NC_000015.10:g.55412118dup, NC_000015.10:g.55412117_55412118dup, NC_000015.10:g.55412116_55412118dup, NC_000015.10:g.55412115_55412118dup, NC_000015.10:g.55412114_55412118dup, NC_000015.10:g.55412113_55412118dup, NC_000015.10:g.55412112_55412118dup, NC_000015.10:g.55412111_55412118dup, NC_000015.10:g.55412110_55412118dup, NC_000015.10:g.55412118_55412119insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.55412118_55412119insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.55412118_55412119insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.55412118_55412119insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.55412118_55412119insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.55412118_55412119insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.55704304_55704316del, NC_000015.9:g.55704305_55704316del, NC_000015.9:g.55704306_55704316del, NC_000015.9:g.55704307_55704316del, NC_000015.9:g.55704308_55704316del, NC_000015.9:g.55704309_55704316del, NC_000015.9:g.55704310_55704316del, NC_000015.9:g.55704311_55704316del, NC_000015.9:g.55704312_55704316del, NC_000015.9:g.55704313_55704316del, NC_000015.9:g.55704314_55704316del, NC_000015.9:g.55704315_55704316del, NC_000015.9:g.55704316del, NC_000015.9:g.55704316dup, NC_000015.9:g.55704315_55704316dup, NC_000015.9:g.55704314_55704316dup, NC_000015.9:g.55704313_55704316dup, NC_000015.9:g.55704312_55704316dup, NC_000015.9:g.55704311_55704316dup, NC_000015.9:g.55704310_55704316dup, NC_000015.9:g.55704309_55704316dup, NC_000015.9:g.55704308_55704316dup, NC_000015.9:g.55704316_55704317insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.55704316_55704317insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.55704316_55704317insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.55704316_55704317insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.55704316_55704317insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.55704316_55704317insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14900756487.

rs1490075648 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:55417890 (GRCh38)
15:55710088 (GRCh37)
Canonical SPDI:: NC_000015.10:55417889:G:A
Gene:: PIERCE2 (Varview), DNAAF4 (Varview), DNAAF4-CCPG1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_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_000015.10:g.55417890G>A, NC_000015.9:g.55710088G>A, NG_021213.1:g.95345C>T, NM_001033560.2:c.*145C>T, NM_001033560.1:c.*145C>T

Select item 14899203678.

rs1489920367 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 15:55418501 (GRCh38)
15:55710699 (GRCh37)
Canonical SPDI:: NC_000015.10:55418500:T:
Gene:: PIERCE2 (Varview), DNAAF4 (Varview), DNAAF4-CCPG1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.55418501del, NC_000015.9:g.55710699del, NG_021213.1:g.94734del, NM_001198784.2:c.297del, NM_001198784.1:c.297del, NP_001185713.1:p.Asn99fs

Select item 14896533099.

rs1489653309 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:55415964 (GRCh38)
15:55708162 (GRCh37)
Canonical SPDI:: NC_000015.10:55415963:G:A
Gene:: PIERCE2 (Varview), DNAAF4-CCPG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.55415964G>A, NC_000015.9:g.55708162G>A, NG_021213.1:g.97271C>T

Select item 148953211410.

rs1489532114 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:55413651 (GRCh38)
15:55705849 (GRCh37)
Canonical SPDI:: NC_000015.10:55413650:T:A
Gene:: PIERCE2 (Varview), DNAAF4-CCPG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.55413651T>A, NC_000015.9:g.55705849T>A

Select item 148946753011.

rs1489467530 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:55418520 (GRCh38)
15:55710718 (GRCh37)
Canonical SPDI:: NC_000015.10:55418519:C:G,NC_000015.10:55418519:C:T
Gene:: PIERCE2 (Varview), DNAAF4 (Varview), DNAAF4-CCPG1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
T=0.000684/2 (KOREAN)
HGVS:: NC_000015.10:g.55418520C>G, NC_000015.10:g.55418520C>T, NC_000015.9:g.55710718C>G, NC_000015.9:g.55710718C>T, NG_021213.1:g.94715G>C, NG_021213.1:g.94715G>A, NM_001198784.2:c.316C>G, NM_001198784.2:c.316C>T, NM_001198784.1:c.316C>G, NM_001198784.1:c.316C>T, NP_001185713.1:p.Pro106Ala, NP_001185713.1:p.Pro106Ser

Select item 148936892112.

rs1489368921 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:55417395 (GRCh38)
15:55709593 (GRCh37)
Canonical SPDI:: NC_000015.10:55417394:C:A,NC_000015.10:55417394:C:T
Gene:: PIERCE2 (Varview), DNAAF4 (Varview), DNAAF4-CCPG1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.55417395C>A, NC_000015.10:g.55417395C>T, NC_000015.9:g.55709593C>A, NC_000015.9:g.55709593C>T, NG_021213.1:g.95840G>T, NG_021213.1:g.95840G>A

Select item 148929736413.

rs1489297364 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:55410210 (GRCh38)
15:55702408 (GRCh37)
Canonical SPDI:: NC_000015.10:55410209:A:G
Gene:: CCPG1 (Varview), PIERCE2 (Varview), DNAAF4-CCPG1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.55410210A>G, NC_000015.9:g.55702408A>G

Select item 148917488614.

rs1489174886 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:55413958 (GRCh38)
15:55706156 (GRCh37)
Canonical SPDI:: NC_000015.10:55413957:C:T
Gene:: PIERCE2 (Varview), DNAAF4-CCPG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001437/24 (ALFA)
T=0.00003/8 (TOPMED)
T=0.000156/1 (1000Genomes)
T=0.00141/195 (GnomAD)
T=0.005357/24 (Estonian)
HGVS:: NC_000015.10:g.55413958C>T, NC_000015.9:g.55706156C>T

Select item 148850887415.

rs1488508874 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:55410304 (GRCh38)
15:55702502 (GRCh37)
Canonical SPDI:: NC_000015.10:55410303:A:G
Gene:: CCPG1 (Varview), PIERCE2 (Varview), DNAAF4-CCPG1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000015.10:g.55410304A>G, NC_000015.9:g.55702502A>G

Select item 148806992716.

rs1488069927 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:55418955 (GRCh38)
15:55711153 (GRCh37)
Canonical SPDI:: NC_000015.10:55418954:C:T
Gene:: PIERCE2 (Varview), DNAAF4 (Varview), DNAAF4-CCPG1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/2 (GnomAD)
HGVS:: NC_000015.10:g.55418955C>T, NC_000015.9:g.55711153C>T, NG_021213.1:g.94280G>A

Select item 148768761917.

rs1487687619 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:55415586 (GRCh38)
15:55707784 (GRCh37)
Canonical SPDI:: NC_000015.10:55415585:G:A,NC_000015.10:55415585:G:C
Gene:: PIERCE2 (Varview), DNAAF4-CCPG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000162/3 (ALFA)
A=0.000021/3 (GnomAD)
A=0.00067/3 (Estonian)
HGVS:: NC_000015.10:g.55415586G>A, NC_000015.10:g.55415586G>C, NC_000015.9:g.55707784G>A, NC_000015.9:g.55707784G>C

Select item 148752447918.

rs1487524479 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:55409908 (GRCh38)
15:55702106 (GRCh37)
Canonical SPDI:: NC_000015.10:55409907:A:T
Gene:: CCPG1 (Varview), PIERCE2 (Varview), DNAAF4-CCPG1 (Varview)
Functional Consequence:: 2KB_upstream_variant,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_000015.10:g.55409908A>T, NC_000015.9:g.55702106A>T

Select item 148731637619.

rs1487316376 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:55407475 (GRCh38)
15:55699673 (GRCh37)
Canonical SPDI:: NC_000015.10:55407474:A:G
Gene:: CCPG1 (Varview), PIERCE2 (Varview), DNAAF4-CCPG1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.55407475A>G, NC_000015.9:g.55699673A>G

Select item 148675142420.

rs1486751424 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:55418421 (GRCh38)
15:55710619 (GRCh37)
Canonical SPDI:: NC_000015.10:55418420:C:G
Gene:: PIERCE2 (Varview), DNAAF4 (Varview), DNAAF4-CCPG1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000015/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.55418421C>G, NC_000015.9:g.55710619C>G, NG_021213.1:g.94814G>C, NM_001198784.2:c.217C>G, NM_001198784.1:c.217C>G, NP_001185713.1:p.Pro73Ala

<< First< Prev

Page of 166

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 3312

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity