SNP Links for Gene (Select 54660) - SNP

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Select item 14912250291.

rs1491225029 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACACACACACACACACCC,ACACACACACACACCC,ACACACACACACCC,ACACACACACCC,ACACACACCC,ACACACCC,ACACCC,ACCC [Show Flanks]
Chromosome:: 5:141237676 (GRCh38)
5:-1 (GRCh37)
Canonical SPDI:: NC_000005.10:141237676:C:CACACACACACACACACCC,NC_000005.10:141237676:C:CACACACACACACACCC,NC_000005.10:141237676:C:CACACACACACACCC,NC_000005.10:141237676:C:CACACACACACCC,NC_000005.10:141237676:C:CACACACACCC,NC_000005.10:141237676:C:CACACACCC,NC_000005.10:141237676:C:CACACCC,NC_000005.10:141237676:C:CACCC
Gene:: PCDHB18P (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACCC=0./0 (ALFA)
HGVS:: NC_000005.10:g.141237677CA[8]CCC[1], NC_000005.10:g.141237677CA[7]CCC[1], NC_000005.10:g.141237677CA[6]CCC[1], NC_000005.10:g.141237677CA[5]CCC[1], NC_000005.10:g.141237677CA[4]CCC[1], NC_000005.10:g.141237677CA[3]CCC[1], NC_000005.10:g.141237677CA[2]CCC[1], NC_000005.10:g.141237677_141237678insACCC, NW_004775428.1:g.472853CA[8]CCC[1], NW_004775428.1:g.472853CA[7]CCC[1], NW_004775428.1:g.472853CA[6]CCC[1], NW_004775428.1:g.472853CA[5]CCC[1], NW_004775428.1:g.472853CA[4]CCC[1], NW_004775428.1:g.472853CA[3]CCC[1], NW_004775428.1:g.472853CA[2]CCC[1], NW_004775428.1:g.472853_472854insACCC, NG_000017.2:g.205798CA[8]CCC[1], NG_000017.2:g.205798CA[7]CCC[1], NG_000017.2:g.205798CA[6]CCC[1], NG_000017.2:g.205798CA[5]CCC[1], NG_000017.2:g.205798CA[4]CCC[1], NG_000017.2:g.205798CA[3]CCC[1], NG_000017.2:g.205798CA[2]CCC[1], NG_000017.2:g.205798_205799insACCC, NW_025791778.1:g.472853CA[8]CCC[1], NW_025791778.1:g.472853CA[7]CCC[1], NW_025791778.1:g.472853CA[6]CCC[1], NW_025791778.1:g.472853CA[5]CCC[1], NW_025791778.1:g.472853CA[4]CCC[1], NW_025791778.1:g.472853CA[3]CCC[1], NW_025791778.1:g.472853CA[2]CCC[1], NW_025791778.1:g.472853_472854insACCC

Select item 14909825552.

rs1490982555 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141232849 (GRCh38)
5:140612421 (GRCh37)
Canonical SPDI:: NC_000005.10:141232848:C:T
Gene:: PCDHB18P (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000005.10:g.141232849C>T, NW_004775428.1:g.468025C>T, NG_000017.2:g.200974C>T, NW_025791778.1:g.468025C>T, NC_000005.9:g.140612421C>T

Select item 14903584003.

rs1490358400 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:141233907 (GRCh38)
5:140613479 (GRCh37)
Canonical SPDI:: NC_000005.10:141233906:C:G,NC_000005.10:141233906:C:T
Gene:: PCDHB18P (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141233907C>G, NC_000005.10:g.141233907C>T, NW_004775428.1:g.469083C>G, NW_004775428.1:g.469083C>T, NG_000017.2:g.202032C>G, NG_000017.2:g.202032C>T, NW_025791778.1:g.469083C>G, NW_025791778.1:g.469083C>T, NC_000005.9:g.140613479C>G, NC_000005.9:g.140613479C>T

Select item 14900233594.

rs1490023359 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141232871 (GRCh38)
5:140612443 (GRCh37)
Canonical SPDI:: NC_000005.10:141232870:C:T
Gene:: PCDHB18P (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141232871C>T, NW_004775428.1:g.468047C>T, NG_000017.2:g.200996C>T, NW_025791778.1:g.468047C>T, NC_000005.9:g.140612443C>T

Select item 14898699055.

rs1489869905 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141233402 (GRCh38)
5:140612974 (GRCh37)
Canonical SPDI:: NC_000005.10:141233401:T:C
Gene:: PCDHB18P (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141233402T>C, NW_004775428.1:g.468578T>C, NG_000017.2:g.201527T>C, NW_025791778.1:g.468578T>C, NC_000005.9:g.140612974T>C

Select item 14885275946.

rs1488527594 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAT>- [Show Flanks]
Chromosome:: 5:141234929 (GRCh38)
5:140614501 (GRCh37)
Canonical SPDI:: NC_000005.10:141234926:ATAAAT:AT
Gene:: PCDHB18P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: AT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141234929_141234932del, NW_004775428.1:g.470105_470108del, NG_000017.2:g.203054_203057del, NW_025791778.1:g.470105_470108del, NC_000005.9:g.140614501_140614504del, NR_001281.2:n.597_600del, NR_001281.1:n.566_569del

Select item 14879760217.

rs1487976021 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 5:141235022 (GRCh38)
5:140614594 (GRCh37)
Canonical SPDI:: NC_000005.10:141235021:G:A,NC_000005.10:141235021:G:C,NC_000005.10:141235021:G:T
Gene:: PCDHB18P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141235022G>A, NC_000005.10:g.141235022G>C, NC_000005.10:g.141235022G>T, NW_004775428.1:g.470198G>A, NW_004775428.1:g.470198G>C, NW_004775428.1:g.470198G>T, NG_000017.2:g.203147G>A, NG_000017.2:g.203147G>C, NG_000017.2:g.203147G>T, NW_025791778.1:g.470198G>A, NW_025791778.1:g.470198G>C, NW_025791778.1:g.470198G>T, NC_000005.9:g.140614594G>A, NC_000005.9:g.140614594G>C, NC_000005.9:g.140614594G>T, NR_001281.2:n.690G>A, NR_001281.2:n.690G>C, NR_001281.2:n.690G>T, NR_001281.1:n.659G>A, NR_001281.1:n.659G>C, NR_001281.1:n.659G>T

Select item 14878381648.

rs1487838164 has merged into rs59527356 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACACACACACACACACAC>-,ACACAC,ACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 5:141237648 (GRCh38)
5:140617256 (GRCh37)
Canonical SPDI:: NC_000005.10:141237637:ACACACACACACACACACACACACACACACACACACACAC:ACACACACAC,NC_000005.10:141237637:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000005.10:141237637:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000005.10:141237637:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000005.10:141237637:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000005.10:141237637:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000005.10:141237637:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000005.10:141237637:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000005.10:141237637:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000005.10:141237637:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000005.10:141237637:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000005.10:141237637:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000005.10:141237637:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:141237637:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:141237637:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:141237637:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:141237637:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:141237637:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:141237637:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:141237637:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:141237637:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:141237637:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:141237637:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:141237637:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:141237637:ACACACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: PCDHB18P (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACAC=0./0 (ALFA)
-=0.3311/1658 (1000Genomes)
-=0.4924/1826 (TWINSUK)
CACACACACA=0.4987/1922 (ALSPAC)
HGVS:: NC_000005.10:g.141237638AC[5], NC_000005.10:g.141237638AC[8], NC_000005.10:g.141237638AC[9], NC_000005.10:g.141237638AC[11], NC_000005.10:g.141237638AC[12], NC_000005.10:g.141237638AC[13], NC_000005.10:g.141237638AC[14], NC_000005.10:g.141237638AC[15], NC_000005.10:g.141237638AC[16], NC_000005.10:g.141237638AC[17], NC_000005.10:g.141237638AC[18], NC_000005.10:g.141237638AC[19], NC_000005.10:g.141237638AC[21], NC_000005.10:g.141237638AC[22], NC_000005.10:g.141237638AC[23], NC_000005.10:g.141237638AC[24], NC_000005.10:g.141237638AC[25], NC_000005.10:g.141237638AC[26], NC_000005.10:g.141237638AC[27], NC_000005.10:g.141237638AC[28], NC_000005.10:g.141237638AC[29], NC_000005.10:g.141237638AC[30], NC_000005.10:g.141237638AC[31], NC_000005.10:g.141237638AC[32], NC_000005.10:g.141237638AC[33], NW_004775428.1:g.472814AC[5], NW_004775428.1:g.472814AC[8], NW_004775428.1:g.472814AC[9], NW_004775428.1:g.472814AC[11], NW_004775428.1:g.472814AC[12], NW_004775428.1:g.472814AC[13], NW_004775428.1:g.472814AC[14], NW_004775428.1:g.472814AC[15], NW_004775428.1:g.472814AC[16], NW_004775428.1:g.472814AC[17], NW_004775428.1:g.472814AC[18], NW_004775428.1:g.472814AC[19], NW_004775428.1:g.472814AC[21], NW_004775428.1:g.472814AC[22], NW_004775428.1:g.472814AC[23], NW_004775428.1:g.472814AC[24], NW_004775428.1:g.472814AC[25], NW_004775428.1:g.472814AC[26], NW_004775428.1:g.472814AC[27], NW_004775428.1:g.472814AC[28], NW_004775428.1:g.472814AC[29], NW_004775428.1:g.472814AC[30], NW_004775428.1:g.472814AC[31], NW_004775428.1:g.472814AC[32], NW_004775428.1:g.472814AC[33], NG_000017.2:g.205763AC[20], NG_000017.2:g.205763AC[5], NG_000017.2:g.205763AC[8], NG_000017.2:g.205763AC[9], NG_000017.2:g.205763AC[11], NG_000017.2:g.205763AC[12], NG_000017.2:g.205763AC[13], NG_000017.2:g.205763AC[14], NG_000017.2:g.205763AC[15], NG_000017.2:g.205763AC[16], NG_000017.2:g.205763AC[17], NG_000017.2:g.205763AC[19], NG_000017.2:g.205763AC[21], NG_000017.2:g.205763AC[22], NG_000017.2:g.205763AC[23], NG_000017.2:g.205763AC[24], NG_000017.2:g.205763AC[25], NG_000017.2:g.205763AC[26], NG_000017.2:g.205763AC[27], NG_000017.2:g.205763AC[28], NG_000017.2:g.205763AC[29], NG_000017.2:g.205763AC[30], NG_000017.2:g.205763AC[31], NG_000017.2:g.205763AC[32], NG_000017.2:g.205763AC[33], NW_025791778.1:g.472814AC[5], NW_025791778.1:g.472814AC[8], NW_025791778.1:g.472814AC[9], NW_025791778.1:g.472814AC[11], NW_025791778.1:g.472814AC[12], NW_025791778.1:g.472814AC[13], NW_025791778.1:g.472814AC[14], NW_025791778.1:g.472814AC[15], NW_025791778.1:g.472814AC[16], NW_025791778.1:g.472814AC[17], NW_025791778.1:g.472814AC[18], NW_025791778.1:g.472814AC[19], NW_025791778.1:g.472814AC[21], NW_025791778.1:g.472814AC[22], NW_025791778.1:g.472814AC[23], NW_025791778.1:g.472814AC[24], NW_025791778.1:g.472814AC[25], NW_025791778.1:g.472814AC[26], NW_025791778.1:g.472814AC[27], NW_025791778.1:g.472814AC[28], NW_025791778.1:g.472814AC[29], NW_025791778.1:g.472814AC[30], NW_025791778.1:g.472814AC[31], NW_025791778.1:g.472814AC[32], NW_025791778.1:g.472814AC[33], NC_000005.9:g.140617245_140617246insACA, NC_000005.9:g.140617220_140617246del, NC_000005.9:g.140617226_140617246del, NC_000005.9:g.140617228_140617246del, NC_000005.9:g.140617232_140617246del, NC_000005.9:g.140617234_140617246del, NC_000005.9:g.140617236_140617246del, NC_000005.9:g.140617238_140617246del, NC_000005.9:g.140617240_140617246del, NC_000005.9:g.140617242_140617246del, NC_000005.9:g.140617244_140617246del, NC_000005.9:g.140617246del, NC_000005.9:g.140617245_140617246insA, NC_000005.9:g.140617245_140617246insACACA, NC_000005.9:g.140617245_140617246insACACACA, NC_000005.9:g.140617245_140617246insACACACACA, NC_000005.9:g.140617245_140617246insACACACACACA, NC_000005.9:g.140617245_140617246insACACACACACACA, NC_000005.9:g.140617245_140617246insACACACACACACACA, NC_000005.9:g.140617245_140617246insACACACACACACACACA, NC_000005.9:g.140617245_140617246insACACACACACACACACACA, NC_000005.9:g.140617245_140617246insACACACACACACACACACACA, NC_000005.9:g.140617245_140617246insACACACACACACACACACACACA, NC_000005.9:g.140617245_140617246insACACACACACACACACACACACACA, NC_000005.9:g.140617245_140617246insACACACACACACACACACACACACACA, NC_000005.9:g.140617245_140617246insACACACACACACACACACACACACACACA

Select item 14876944259.

rs1487694425 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141236886 (GRCh38)
5:140616458 (GRCh37)
Canonical SPDI:: NC_000005.10:141236885:G:A
Gene:: PCDHB18P (Varview)
Functional Consequence:: non_coding_transcript_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_000005.10:g.141236886G>A, NW_004775428.1:g.472062G>A, NG_000017.2:g.205011G>A, NW_025791778.1:g.472062G>A, NC_000005.9:g.140616458G>A, NR_001281.2:n.2554G>A, NR_001281.1:n.2523G>A

Select item 148751227310.

rs1487512273 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141237909 (GRCh38)
5:140617477 (GRCh37)
Canonical SPDI:: NC_000005.10:141237908:T:C
Gene:: PCDHB18P (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000425/7 (TOMMO)
C=0.000546/1 (Korea1K)
C=0.000684/2 (KOREAN)
HGVS:: NC_000005.10:g.141237909T>C, NW_004775428.1:g.473085T>C, NG_000017.2:g.206030T>C, NW_025791778.1:g.473085T>C, NC_000005.9:g.140617477T>C

Select item 148685350311.

rs1486853503 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141237323 (GRCh38)
5:140616895 (GRCh37)
Canonical SPDI:: NC_000005.10:141237322:C:T
Gene:: PCDHB18P (Varview)
Functional Consequence:: non_coding_transcript_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_000005.10:g.141237323C>T, NW_004775428.1:g.472499C>T, NG_000017.2:g.205448C>T, NW_025791778.1:g.472499C>T, NC_000005.9:g.140616895C>T, NR_001281.2:n.2991C>T, NR_001281.1:n.2960C>T

Select item 148468369912.

rs1484683699 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:141232997 (GRCh38)
5:140612569 (GRCh37)
Canonical SPDI:: NC_000005.10:141232996:T:A
Gene:: PCDHB18P (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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.141232997T>A, NW_004775428.1:g.468173T>A, NG_000017.2:g.201122T>A, NW_025791778.1:g.468173T>A, NC_000005.9:g.140612569T>A

Select item 148455189113.

rs1484551891 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:141236909 (GRCh38)
5:140616481 (GRCh37)
Canonical SPDI:: NC_000005.10:141236908:A:T
Gene:: PCDHB18P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.141236909A>T, NW_004775428.1:g.472085A>T, NG_000017.2:g.205034A>T, NW_025791778.1:g.472085A>T, NC_000005.9:g.140616481A>T, NR_001281.2:n.2577A>T, NR_001281.1:n.2546A>T

Select item 148440823214.

rs1484408232 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141236310 (GRCh38)
5:140615882 (GRCh37)
Canonical SPDI:: NC_000005.10:141236309:G:A
Gene:: PCDHB18P (Varview)
Functional Consequence:: non_coding_transcript_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_000005.10:g.141236310G>A, NW_004775428.1:g.471486G>A, NG_000017.2:g.204435G>A, NW_025791778.1:g.471486G>A, NC_000005.9:g.140615882G>A, NR_001281.2:n.1978G>A, NR_001281.1:n.1947G>A

Select item 148437658915.

rs1484376589 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:141235676 (GRCh38)
5:140615248 (GRCh37)
Canonical SPDI:: NC_000005.10:141235675:C:A
Gene:: PCDHB18P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141235676C>A, NW_004775428.1:g.470852C>A, NG_000017.2:g.203801C>A, NW_025791778.1:g.470852C>A, NC_000005.9:g.140615248C>A, NR_001281.2:n.1344C>A, NR_001281.1:n.1313C>A

Select item 148372389316.

rs1483723893 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141234806 (GRCh38)
5:140614378 (GRCh37)
Canonical SPDI:: NC_000005.10:141234805:C:T
Gene:: PCDHB18P (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.141234806C>T, NW_004775428.1:g.469982C>T, NG_000017.2:g.202931C>T, NW_025791778.1:g.469982C>T, NC_000005.9:g.140614378C>T, NR_001281.2:n.474C>T, NR_001281.1:n.443C>T

Select item 148310664117.

rs1483106641 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141233802 (GRCh38)
5:140613374 (GRCh37)
Canonical SPDI:: NC_000005.10:141233801:T:C
Gene:: PCDHB18P (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000005.10:g.141233802T>C, NW_004775428.1:g.468978T>C, NG_000017.2:g.201927T>C, NW_025791778.1:g.468978T>C, NC_000005.9:g.140613374T>C

Select item 148277717918.

rs1482777179 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141235347 (GRCh38)
5:140614919 (GRCh37)
Canonical SPDI:: NC_000005.10:141235346:G:A
Gene:: PCDHB18P (Varview)
Functional Consequence:: non_coding_transcript_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_000005.10:g.141235347G>A, NW_004775428.1:g.470523G>A, NG_000017.2:g.203472G>A, NW_025791778.1:g.470523G>A, NC_000005.9:g.140614919G>A, NR_001281.2:n.1015G>A, NR_001281.1:n.984G>A

Select item 148173198319.

rs1481731983 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141234019 (GRCh38)
5:140613591 (GRCh37)
Canonical SPDI:: NC_000005.10:141234018:T:C
Gene:: PCDHB18P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000005.10:g.141234019T>C, NW_004775428.1:g.469195T>C, NG_000017.2:g.202144T>C, NW_025791778.1:g.469195T>C, NC_000005.9:g.140613591T>C

Select item 148158807120.

rs1481588071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141232963 (GRCh38)
5:140612535 (GRCh37)
Canonical SPDI:: NC_000005.10:141232962:C:T
Gene:: PCDHB18P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000035/1 (TOMMO)
T=0.000038/10 (TOPMED)
T=0.000057/8 (GnomAD)
T=0.001092/2 (Korea1K)
HGVS:: NC_000005.10:g.141232963C>T, NW_004775428.1:g.468139C>T, NG_000017.2:g.201088C>T, NW_025791778.1:g.468139C>T, NC_000005.9:g.140612535C>T

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