SNP Links for Gene (Select 8929) - SNP

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Select item 14915204241.

rs1491520424 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:41744007 (GRCh38)
4:41746024 (GRCh37)
Canonical SPDI:: NC_000004.12:41744006:TA:
Gene:: PHOX2B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
HGVS:: NC_000004.12:g.41744007_41744008del, NC_000004.11:g.41746024_41746025del, NG_008243.1:g.9963_9964del

Select item 14913064522.

rs1491306452 has merged into rs35121952 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAATGACCAACCAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:41744018 (GRCh38)
4:41746035 (GRCh37)
Canonical SPDI:: NC_000004.12:41744007:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:41744007:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:41744007:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:41744007:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:41744007:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:41744007:AAAAAAAAAAAAA:AAAAAAAAAAAAATGACCAACCAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PHOX2B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.02719/49 (Korea1K)
-=0.1227/487 (1000Genomes)
HGVS:: NC_000004.12:g.41744018_41744020del, NC_000004.12:g.41744019_41744020del, NC_000004.12:g.41744020del, NC_000004.12:g.41744020dup, NC_000004.12:g.41744019_41744020dup, NC_000004.12:g.41744008_41744020A[13]TGACCAACCAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.41746035_41746037del, NC_000004.11:g.41746036_41746037del, NC_000004.11:g.41746037del, NC_000004.11:g.41746037dup, NC_000004.11:g.41746036_41746037dup, NC_000004.11:g.41746025_41746037A[13]TGACCAACCAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_008243.1:g.9961_9963del, NG_008243.1:g.9962_9963del, NG_008243.1:g.9963del, NG_008243.1:g.9963dup, NG_008243.1:g.9962_9963dup, NG_008243.1:g.9951_9963T[26]GGTTGGTCATTTTTTTTTTTTT[1]

Select item 14912724303.

Error occurred: cannot get document summary

Select item 14907905554.

rs1490790555 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:41746946 (GRCh38)
4:41748963 (GRCh37)
Canonical SPDI:: NC_000004.12:41746945:T:C
Gene:: PHOX2B (Varview), PHOX2B-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000004.12:g.41746946T>C, NC_000004.11:g.41748963T>C, NG_008243.1:g.7025A>G

Select item 14905872785.

rs1490587278 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:41749275 (GRCh38)
4:41751292 (GRCh37)
Canonical SPDI:: NC_000004.12:41749274:C:T
Gene:: PHOX2B (Varview), PHOX2B-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.41749275C>T, NC_000004.11:g.41751292C>T, NG_008243.1:g.4696G>A

Select item 14900473206.

rs1490047320 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:41749688 (GRCh38)
4:41751705 (GRCh37)
Canonical SPDI:: NC_000004.12:41749687:A:G
Gene:: PHOX2B (Varview), PHOX2B-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_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_000004.12:g.41749688A>G, NC_000004.11:g.41751705A>G, NG_008243.1:g.4283T>C

Select item 14889860547.

rs1488986054 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:41747161 (GRCh38)
4:41749178 (GRCh37)
Canonical SPDI:: NC_000004.12:41747160:C:G
Gene:: PHOX2B (Varview), PHOX2B-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.41747161C>G, NC_000004.11:g.41749178C>G, NG_008243.1:g.6810G>C

Select item 14889155458.

rs1488915545 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 4:41748035 (GRCh38)
4:41750052 (GRCh37)
Canonical SPDI:: NC_000004.12:41748034:TT:T
Gene:: PHOX2B (Varview), PHOX2B-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.41748036del, NC_000004.11:g.41750053del, NG_008243.1:g.5936del

Select item 14885291239.

rs1488529123 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:41748453 (GRCh38)
4:41750470 (GRCh37)
Canonical SPDI:: NC_000004.12:41748452:G:A,NC_000004.12:41748452:G:T
Gene:: PHOX2B (Varview), PHOX2B-AS1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000004.12:g.41748453G>A, NC_000004.12:g.41748453G>T, NC_000004.11:g.41750470G>A, NC_000004.11:g.41750470G>T, NG_008243.1:g.5518C>T, NG_008243.1:g.5518C>A, NM_003924.4:c.158C>T, NM_003924.4:c.158C>A, NM_003924.3:c.158C>T, NM_003924.3:c.158C>A, XR_925256.3:n.105G>A, XR_925256.3:n.105G>T, XR_925256.2:n.161G>A, XR_925256.2:n.161G>T, XR_001741668.2:n.105G>A, XR_001741668.2:n.105G>T, XR_001741668.1:n.161G>A, XR_001741668.1:n.161G>T, XR_001741671.2:n.105G>A, XR_001741671.2:n.105G>T, XR_001741671.1:n.161G>A, XR_001741671.1:n.161G>T, XR_001741670.2:n.105G>A, XR_001741670.2:n.105G>T, XR_001741670.1:n.161G>A, XR_001741670.1:n.161G>T, XR_001741669.2:n.105G>A, XR_001741669.2:n.105G>T, XR_001741669.1:n.161G>A, XR_001741669.1:n.161G>T, NP_003915.2:p.Ala53Val, NP_003915.2:p.Ala53Asp

Select item 148852468310.

rs1488524683 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:41744915 (GRCh38)
4:41746932 (GRCh37)
Canonical SPDI:: NC_000004.12:41744914:G:A,NC_000004.12:41744914:G:C
Gene:: PHOX2B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.41744915G>A, NC_000004.12:g.41744915G>C, NC_000004.11:g.41746932G>A, NC_000004.11:g.41746932G>C, NG_008243.1:g.9056C>T, NG_008243.1:g.9056C>G, NM_003924.4:c.*892C>T, NM_003924.4:c.*892C>G, NM_003924.3:c.*892C>T, NM_003924.3:c.*892C>G

Select item 148727852611.

rs1487278526 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:41750323 (GRCh38)
4:41752340 (GRCh37)
Canonical SPDI:: NC_000004.12:41750322:C:A
Gene:: PHOX2B (Varview), PHOX2B-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000004.12:g.41750323C>A, NC_000004.11:g.41752340C>A, NG_008243.1:g.3648G>T

Select item 148663097312.

rs1486630973 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:41745330 (GRCh38)
4:41747347 (GRCh37)
Canonical SPDI:: NC_000004.12:41745329:A:G,NC_000004.12:41745329:A:T
Gene:: PHOX2B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.41745330A>G, NC_000004.12:g.41745330A>T, NC_000004.11:g.41747347A>G, NC_000004.11:g.41747347A>T, NG_008243.1:g.8641T>C, NG_008243.1:g.8641T>A, NM_003924.4:c.*477T>C, NM_003924.4:c.*477T>A, NM_003924.3:c.*477T>C, NM_003924.3:c.*477T>A

Select item 148662933613.

rs1486629336 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 4:41748473 (GRCh38)
4:41750490 (GRCh37)
Canonical SPDI:: NC_000004.12:41748472:C:A,NC_000004.12:41748472:C:G,NC_000004.12:41748472:C:T
Gene:: PHOX2B (Varview), PHOX2B-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.41748473C>A, NC_000004.12:g.41748473C>G, NC_000004.12:g.41748473C>T, NC_000004.11:g.41750490C>A, NC_000004.11:g.41750490C>G, NC_000004.11:g.41750490C>T, NG_008243.1:g.5498G>T, NG_008243.1:g.5498G>C, NG_008243.1:g.5498G>A, NM_003924.4:c.138G>T, NM_003924.4:c.138G>C, NM_003924.4:c.138G>A, NM_003924.3:c.138G>T, NM_003924.3:c.138G>C, NM_003924.3:c.138G>A, XR_925256.3:n.125C>A, XR_925256.3:n.125C>G, XR_925256.3:n.125C>T, XR_925256.2:n.181C>A, XR_925256.2:n.181C>G, XR_925256.2:n.181C>T, XR_001741668.2:n.125C>A, XR_001741668.2:n.125C>G, XR_001741668.2:n.125C>T, XR_001741668.1:n.181C>A, XR_001741668.1:n.181C>G, XR_001741668.1:n.181C>T, XR_001741671.2:n.125C>A, XR_001741671.2:n.125C>G, XR_001741671.2:n.125C>T, XR_001741671.1:n.181C>A, XR_001741671.1:n.181C>G, XR_001741671.1:n.181C>T, XR_001741670.2:n.125C>A, XR_001741670.2:n.125C>G, XR_001741670.2:n.125C>T, XR_001741670.1:n.181C>A, XR_001741670.1:n.181C>G, XR_001741670.1:n.181C>T, XR_001741669.2:n.125C>A, XR_001741669.2:n.125C>G, XR_001741669.2:n.125C>T, XR_001741669.1:n.181C>A, XR_001741669.1:n.181C>G, XR_001741669.1:n.181C>T

Select item 148661967214.

rs1486619672 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:41747933 (GRCh38)
4:41749950 (GRCh37)
Canonical SPDI:: NC_000004.12:41747932:C:G
Gene:: PHOX2B (Varview), PHOX2B-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0./0 (GnomAD)
HGVS:: NC_000004.12:g.41747933C>G, NC_000004.11:g.41749950C>G, NG_008243.1:g.6038G>C

Select item 148656875515.

rs1486568755 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:41747300 (GRCh38)
4:41749317 (GRCh37)
Canonical SPDI:: NC_000004.12:41747299:C:G,NC_000004.12:41747299:C:T
Gene:: PHOX2B (Varview), PHOX2B-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000004.12:g.41747300C>G, NC_000004.12:g.41747300C>T, NC_000004.11:g.41749317C>G, NC_000004.11:g.41749317C>T, NG_008243.1:g.6671G>C, NG_008243.1:g.6671G>A

Select item 148655565116.

rs1486555651 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:41745268 (GRCh38)
4:41747285 (GRCh37)
Canonical SPDI:: NC_000004.12:41745267:T:C
Gene:: PHOX2B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.41745268T>C, NC_000004.11:g.41747285T>C, NG_008243.1:g.8703A>G, NM_003924.4:c.*539A>G, NM_003924.3:c.*539A>G

Select item 148576021417.

rs1485760214 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:41749153 (GRCh38)
4:41751170 (GRCh37)
Canonical SPDI:: NC_000004.12:41749152:G:A,NC_000004.12:41749152:G:C
Gene:: PHOX2B (Varview), PHOX2B-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.41749153G>A, NC_000004.12:g.41749153G>C, NC_000004.11:g.41751170G>A, NC_000004.11:g.41751170G>C, NG_008243.1:g.4818C>T, NG_008243.1:g.4818C>G

Select item 148565035118.

rs1485650351 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:41744959 (GRCh38)
4:41746976 (GRCh37)
Canonical SPDI:: NC_000004.12:41744958:G:A,NC_000004.12:41744958:G:C
Gene:: PHOX2B (Varview)
Functional Consequence:: 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_000004.12:g.41744959G>A, NC_000004.12:g.41744959G>C, NC_000004.11:g.41746976G>A, NC_000004.11:g.41746976G>C, NG_008243.1:g.9012C>T, NG_008243.1:g.9012C>G, NM_003924.4:c.*848C>T, NM_003924.4:c.*848C>G, NM_003924.3:c.*848C>T, NM_003924.3:c.*848C>G

Select item 148466782819.

rs1484667828 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:41747304 (GRCh38)
4:41749321 (GRCh37)
Canonical SPDI:: NC_000004.12:41747303:C:T
Gene:: PHOX2B (Varview), PHOX2B-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.41747304C>T, NC_000004.11:g.41749321C>T, NG_008243.1:g.6667G>A

Select item 148466201120.

rs1484662011 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:41744524 (GRCh38)
4:41746541 (GRCh37)
Canonical SPDI:: NC_000004.12:41744523:C:T
Gene:: PHOX2B (Varview)
Functional Consequence:: 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_000004.12:g.41744524C>T, NC_000004.11:g.41746541C>T, NG_008243.1:g.9447G>A, NM_003924.4:c.*1283G>A, NM_003924.3:c.*1283G>A

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