SNP Links for Gene (Select 5623) - SNP

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Links from Gene

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Select item 14909824041.

rs1490982404 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:6375934 (GRCh38)
19:6375945 (GRCh37)
Canonical SPDI:: NC_000019.10:6375933:C:G
Gene:: PSPN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000019.10:g.6375934C>G, NC_000019.9:g.6375945C>G

Select item 14907878012.

rs1490787801 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:6375359 (GRCh38)
19:6375370 (GRCh37)
Canonical SPDI:: NC_000019.10:6375358:C:T
Gene:: PSPN (Varview), ALKBH7 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.000043/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.6375359C>T, NC_000019.9:g.6375370C>T, NM_004158.5:c.406G>A, NM_004158.4:c.406G>A, NM_004158.3:c.406G>A, NM_004158.2:c.406G>A, NP_004149.1:p.Asp136Asn

Select item 14901689913.

rs1490168991 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:6375034 (GRCh38)
19:6375045 (GRCh37)
Canonical SPDI:: NC_000019.10:6375033:G:A
Gene:: PSPN (Varview), ALKBH7 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.6375034G>A, NC_000019.9:g.6375045G>A, XM_005259658.5:c.*61G>A, XM_005259658.3:c.*61G>A, XM_005259658.2:c.*61G>A, XM_005259658.1:c.*61G>A, NM_032306.4:c.*61G>A, NM_032306.3:c.*61G>A

Select item 14899742604.

rs1489974260 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:6377284 (GRCh38)
19:6377295 (GRCh37)
Canonical SPDI:: NC_000019.10:6377283:C:A
Gene:: PSPN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.6377284C>A, NC_000019.9:g.6377295C>A

Select item 14898390185.

rs1489839018 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:6375195 (GRCh38)
19:6375206 (GRCh37)
Canonical SPDI:: NC_000019.10:6375194:CCC:CC
Gene:: PSPN (Varview), ALKBH7 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.6375197del, NC_000019.9:g.6375208del, XM_005259658.5:c.*224del, XM_005259658.1:c.*224del, NM_004158.5:c.*99del, NM_004158.4:c.*99del, NM_004158.3:c.*99del, NM_032306.4:c.*224del, NM_032306.3:c.*224del

Select item 14898198896.

rs1489819889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:6375362 (GRCh38)
19:6375373 (GRCh37)
Canonical SPDI:: NC_000019.10:6375361:G:A,NC_000019.10:6375361:G:C
Gene:: PSPN (Varview), ALKBH7 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.00006/1 (TOMMO)
HGVS:: NC_000019.10:g.6375362G>A, NC_000019.10:g.6375362G>C, NC_000019.9:g.6375373G>A, NC_000019.9:g.6375373G>C, NM_004158.5:c.403C>T, NM_004158.5:c.403C>G, NM_004158.4:c.403C>T, NM_004158.4:c.403C>G, NM_004158.3:c.403C>T, NM_004158.3:c.403C>G, NM_004158.2:c.403C>T, NM_004158.2:c.403C>G, NP_004149.1:p.Leu135Phe, NP_004149.1:p.Leu135Val

Select item 14871690997.

rs1487169099 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:6374918 (GRCh38)
19:6374929 (GRCh37)
Canonical SPDI:: NC_000019.10:6374917:C:A,NC_000019.10:6374917:C:T
Gene:: PSPN (Varview), ALKBH7 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.6374918C>A, NC_000019.10:g.6374918C>T, NC_000019.9:g.6374929C>A, NC_000019.9:g.6374929C>T, XM_005259658.5:c.533C>A, XM_005259658.5:c.533C>T, XM_005259658.4:c.533C>A, XM_005259658.4:c.533C>T, XM_005259658.3:c.533C>A, XM_005259658.3:c.533C>T, XM_005259658.2:c.533C>A, XM_005259658.2:c.533C>T, XM_005259658.1:c.533C>A, XM_005259658.1:c.533C>T, NM_032306.4:c.611C>A, NM_032306.4:c.611C>T, NM_032306.3:c.611C>A, NM_032306.3:c.611C>T, XP_005259715.1:p.Ser178Tyr, XP_005259715.1:p.Ser178Phe, NP_115682.1:p.Ser204Tyr, NP_115682.1:p.Ser204Phe

Select item 14856993258.

rs1485699325 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:6376650 (GRCh38)
19:6376661 (GRCh37)
Canonical SPDI:: NC_000019.10:6376649:G:C
Gene:: PSPN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.6376650G>C, NC_000019.9:g.6376661G>C

Select item 14853425039.

rs1485342503 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:6375955 (GRCh38)
19:6375966 (GRCh37)
Canonical SPDI:: NC_000019.10:6375954:C:G,NC_000019.10:6375954:C:T
Gene:: PSPN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (KOREAN)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.6375955C>G, NC_000019.10:g.6375955C>T, NC_000019.9:g.6375966C>G, NC_000019.9:g.6375966C>T

Select item 148527223110.

rs1485272231 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:6375420 (GRCh38)
19:6375431 (GRCh37)
Canonical SPDI:: NC_000019.10:6375419:C:T
Gene:: PSPN (Varview), ALKBH7 (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.6375420C>T, NC_000019.9:g.6375431C>T, NM_004158.5:c.345G>A, NM_004158.4:c.345G>A, NM_004158.3:c.345G>A, NM_004158.2:c.345G>A

Select item 148439015211.

rs1484390152 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:6377525 (GRCh38)
19:6377537 (GRCh37)
Canonical SPDI:: NC_000019.10:6377525:T:TT
Gene:: PSPN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.6377526dup, NC_000019.9:g.6377537dup

Select item 148349878612.

rs1483498786 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:6376496 (GRCh38)
19:6376507 (GRCh37)
Canonical SPDI:: NC_000019.10:6376495:G:A
Gene:: PSPN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.6376496G>A, NC_000019.9:g.6376507G>A

Select item 148311748713.

rs1483117487 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:6376173 (GRCh38)
19:6376184 (GRCh37)
Canonical SPDI:: NC_000019.10:6376172:G:A
Gene:: PSPN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.6376173G>A, NC_000019.9:g.6376184G>A

Select item 148270945114.

rs1482709451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:6377482 (GRCh38)
19:6377493 (GRCh37)
Canonical SPDI:: NC_000019.10:6377481:G:A
Gene:: PSPN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.6377482G>A, NC_000019.9:g.6377493G>A

Select item 148140390715.

rs1481403907 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:6375319 (GRCh38)
19:6375330 (GRCh37)
Canonical SPDI:: NC_000019.10:6375318:G:A
Gene:: PSPN (Varview), ALKBH7 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000052/2 (GnomAD_exomes)
A=0.00006/16 (TOPMED)
A=0.000064/9 (GnomAD)
HGVS:: NC_000019.10:g.6375319G>A, NC_000019.9:g.6375330G>A, NM_004158.5:c.446C>T, NM_004158.4:c.446C>T, NM_004158.3:c.446C>T, NM_004158.2:c.446C>T, NP_004149.1:p.Ala149Val

Select item 148081266116.

rs1480812661 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 19:6375554 (GRCh38)
19:6375565 (GRCh37)
Canonical SPDI:: NC_000019.10:6375553:G:C,NC_000019.10:6375553:G:T
Gene:: PSPN (Varview), ALKBH7 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000005/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.6375554G>C, NC_000019.10:g.6375554G>T, NC_000019.9:g.6375565G>C, NC_000019.9:g.6375565G>T, NM_004158.5:c.211C>G, NM_004158.5:c.211C>A, NM_004158.4:c.211C>G, NM_004158.4:c.211C>A, NM_004158.3:c.211C>G, NM_004158.3:c.211C>A, NM_004158.2:c.211C>G, NM_004158.2:c.211C>A, NP_004149.1:p.Leu71Val, NP_004149.1:p.Leu71Met

Select item 148059288317.

rs1480592883 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:6377273 (GRCh38)
19:6377284 (GRCh37)
Canonical SPDI:: NC_000019.10:6377272:G:A
Gene:: PSPN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
HGVS:: NC_000019.10:g.6377273G>A, NC_000019.9:g.6377284G>A

Select item 148042663518.

rs1480426635 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:6376237 (GRCh38)
19:6376248 (GRCh37)
Canonical SPDI:: NC_000019.10:6376236:C:G
Gene:: PSPN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000019.10:g.6376237C>G, NC_000019.9:g.6376248C>G

Select item 148032291219.

rs1480322912 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:6375601 (GRCh38)
19:6375612 (GRCh37)
Canonical SPDI:: NC_000019.10:6375600:A:G
Gene:: PSPN (Varview), ALKBH7 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.6375601A>G, NC_000019.9:g.6375612A>G, NM_004158.5:c.164T>C, NM_004158.4:c.164T>C, NM_004158.3:c.164T>C, NM_004158.2:c.164T>C, NP_004149.1:p.Leu55Pro

Select item 148024941420.

rs1480249414 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:6376274 (GRCh38)
19:6376285 (GRCh37)
Canonical SPDI:: NC_000019.10:6376273:T:C
Gene:: PSPN (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.6376274T>C, NC_000019.9:g.6376285T>C

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