SNP Links for Protein (Select 24497597) - SNP

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:37072547 (GRCh38)
21:38444847 (GRCh37)
Canonical SPDI:: NC_000021.9:37072546:A:G
Gene:: TTC3 (Varview), PIGP (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.37072547A>G, NC_000021.8:g.38444847A>G, NM_153681.2:c.41T>C, NP_710148.1:p.Leu14Pro

Select item 14792077097.

rs1479207709 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:37067323 (GRCh38)
21:38439623 (GRCh37)
Canonical SPDI:: NC_000021.9:37067322:C:G
Gene:: PIGP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000021.9:g.37067323C>G, NC_000021.8:g.38439623C>G, NM_016430.4:c.135G>C, NM_016430.3:c.135G>C, NM_016430.2:c.135G>C, NM_016430.1:c.135G>C, NM_153682.3:c.213G>C, NM_153682.2:c.213G>C, NM_153681.2:c.285G>C, NM_001320480.2:c.213G>C, NM_001320480.1:c.213G>C, NR_028352.1:n.560G>C

Select item 14747715378.

rs1474771537 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:37065647 (GRCh38)
21:38437947 (GRCh37)
Canonical SPDI:: NC_000021.9:37065646:T:C
Gene:: PIGP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000021.9:g.37065647T>C, NC_000021.8:g.38437947T>C, NM_016430.4:c.262A>G, NM_016430.3:c.262A>G, NM_016430.2:c.262A>G, NM_016430.1:c.262A>G, NM_153682.3:c.340A>G, NM_153682.2:c.340A>G, NM_153681.2:c.412A>G, NM_001320480.2:c.340A>G, NM_001320480.1:c.340A>G, NR_028352.1:n.687A>G, NP_057514.2:p.Ile88Val, NP_710149.1:p.Ile114Val, NP_710148.1:p.Ile138Val, NP_001307409.1:p.Ile114Val

Select item 14668581339.

rs1466858133 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:37072571 (GRCh38)
21:38444871 (GRCh37)
Canonical SPDI:: NC_000021.9:37072570:G:A
Gene:: TTC3 (Varview), PIGP (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.37072571G>A, NC_000021.8:g.38444871G>A, NM_153681.2:c.17C>T, NP_710148.1:p.Thr6Ile

Select item 146442196110.

rs1464421961 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:37067361 (GRCh38)
21:38439661 (GRCh37)
Canonical SPDI:: NC_000021.9:37067360:G:C
Gene:: PIGP (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000021.9:g.37067361G>C, NC_000021.8:g.38439661G>C, NM_016430.4:c.97C>G, NM_016430.3:c.97C>G, NM_016430.2:c.97C>G, NM_016430.1:c.97C>G, NM_153682.3:c.175C>G, NM_153682.2:c.175C>G, NM_153681.2:c.247C>G, NM_001320480.2:c.175C>G, NM_001320480.1:c.175C>G, NR_028352.1:n.522C>G, NP_057514.2:p.Pro33Ala, NP_710149.1:p.Pro59Ala, NP_710148.1:p.Pro83Ala, NP_001307409.1:p.Pro59Ala

Select item 145819321811.

rs1458193218 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 21:37072572 (GRCh38)
21:38444872 (GRCh37)
Canonical SPDI:: NC_000021.9:37072571:T:A
Gene:: TTC3 (Varview), PIGP (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.37072572T>A, NC_000021.8:g.38444872T>A, NM_153681.2:c.16A>T, NP_710148.1:p.Thr6Ser

Select item 144765063512.

rs1447650635 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:37072537 (GRCh38)
21:38444837 (GRCh37)
Canonical SPDI:: NC_000021.9:37072536:T:C
Gene:: TTC3 (Varview), PIGP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.37072537T>C, NC_000021.8:g.38444837T>C, NM_016430.4:c.-266A>G, NM_016430.3:c.-266A>G, NM_016430.2:c.-266A>G, NM_016430.1:c.-266A>G, NM_153682.3:c.-22A>G, NM_153682.2:c.-22A>G, NM_153681.2:c.51A>G, NM_001320480.2:c.-22A>G, NM_001320480.1:c.-22A>G, NR_028352.1:n.160A>G

Select item 144380057813.

rs1443800578 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:37065671 (GRCh38)
21:38437971 (GRCh37)
Canonical SPDI:: NC_000021.9:37065670:C:T
Gene:: PIGP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.37065671C>T, NC_000021.8:g.38437971C>T, NM_016430.4:c.238G>A, NM_016430.3:c.238G>A, NM_016430.2:c.238G>A, NM_016430.1:c.238G>A, NM_153682.3:c.316G>A, NM_153682.2:c.316G>A, NM_153681.2:c.388G>A, NM_001320480.2:c.316G>A, NM_001320480.1:c.316G>A, NR_028352.1:n.663G>A, NP_057514.2:p.Glu80Lys, NP_710149.1:p.Glu106Lys, NP_710148.1:p.Glu130Lys, NP_001307409.1:p.Glu106Lys

Select item 144288379414.

rs1442883794 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:37072454 (GRCh38)
21:38444754 (GRCh37)
Canonical SPDI:: NC_000021.9:37072453:A:G
Gene:: TTC3 (Varview), PIGP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.37072454A>G, NC_000021.8:g.38444754A>G, NM_016430.4:c.-183T>C, NM_016430.3:c.-183T>C, NM_016430.2:c.-183T>C, NM_016430.1:c.-183T>C, NM_153682.3:c.62T>C, NM_153682.2:c.62T>C, NM_153681.2:c.134T>C, NM_001320480.2:c.62T>C, NM_001320480.1:c.62T>C, NR_028352.1:n.243T>C, NP_710149.1:p.Leu21Ser, NP_710148.1:p.Leu45Ser, NP_001307409.1:p.Leu21Ser

Select item 143142283515.

rs1431422835 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:37067277 (GRCh38)
21:38439577 (GRCh37)
Canonical SPDI:: NC_000021.9:37067276:T:C
Gene:: PIGP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.37067277T>C, NC_000021.8:g.38439577T>C, NM_016430.4:c.181A>G, NM_016430.3:c.181A>G, NM_016430.2:c.181A>G, NM_016430.1:c.181A>G, NM_153682.3:c.259A>G, NM_153682.2:c.259A>G, NM_153681.2:c.331A>G, NM_001320480.2:c.259A>G, NM_001320480.1:c.259A>G, NR_028352.1:n.606A>G, NP_057514.2:p.Ile61Val, NP_710149.1:p.Ile87Val, NP_710148.1:p.Ile111Val, NP_001307409.1:p.Ile87Val

Select item 142135410116.

rs1421354101 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 21:37065600 (GRCh38)
21:38437900 (GRCh37)
Canonical SPDI:: NC_000021.9:37065599:T:A
Gene:: PIGP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.37065600T>A, NC_000021.8:g.38437900T>A, NM_016430.4:c.309A>T, NM_016430.3:c.309A>T, NM_016430.2:c.309A>T, NM_016430.1:c.309A>T, NM_153682.3:c.387A>T, NM_153682.2:c.387A>T, NM_153681.2:c.459A>T, NM_001320480.2:c.387A>T, NM_001320480.1:c.387A>T, NR_028352.1:n.734A>T, NP_057514.2:p.Glu103Asp, NP_710149.1:p.Glu129Asp, NP_710148.1:p.Glu153Asp, NP_001307409.1:p.Glu129Asp

Select item 140323626917.

rs1403236269 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:37067342 (GRCh38)
21:38439642 (GRCh37)
Canonical SPDI:: NC_000021.9:37067341:G:C
Gene:: PIGP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.37067342G>C, NC_000021.8:g.38439642G>C, NM_016430.4:c.116C>G, NM_016430.3:c.116C>G, NM_016430.2:c.116C>G, NM_016430.1:c.116C>G, NM_153682.3:c.194C>G, NM_153682.2:c.194C>G, NM_153681.2:c.266C>G, NM_001320480.2:c.194C>G, NM_001320480.1:c.194C>G, NR_028352.1:n.541C>G, NP_057514.2:p.Ala39Gly, NP_710149.1:p.Ala65Gly, NP_710148.1:p.Ala89Gly, NP_001307409.1:p.Ala65Gly

Select item 139994549318.

rs1399945493 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:37067337 (GRCh38)
21:38439637 (GRCh37)
Canonical SPDI:: NC_000021.9:37067336:C:T
Gene:: PIGP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000021.9:g.37067337C>T, NC_000021.8:g.38439637C>T, NM_016430.4:c.121G>A, NM_016430.3:c.121G>A, NM_016430.2:c.121G>A, NM_016430.1:c.121G>A, NM_153682.3:c.199G>A, NM_153682.2:c.199G>A, NM_153681.2:c.271G>A, NM_001320480.2:c.199G>A, NM_001320480.1:c.199G>A, NR_028352.1:n.546G>A, NP_057514.2:p.Val41Ile, NP_710149.1:p.Val67Ile, NP_710148.1:p.Val91Ile, NP_001307409.1:p.Val67Ile

Select item 139986229519.

rs1399862295 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:37069559 (GRCh38)
21:38441859 (GRCh37)
Canonical SPDI:: NC_000021.9:37069558:G:A
Gene:: PIGP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000021.9:g.37069559G>A, NC_000021.8:g.38441859G>A, NM_016430.4:c.70C>T, NM_016430.3:c.70C>T, NM_016430.2:c.70C>T, NM_016430.1:c.70C>T, NM_153682.3:c.148C>T, NM_153682.2:c.148C>T, NM_153681.2:c.220C>T, NM_001320480.2:c.148C>T, NM_001320480.1:c.148C>T, NR_028352.1:n.495C>T, NP_057514.2:p.Pro24Ser, NP_710149.1:p.Pro50Ser, NP_710148.1:p.Pro74Ser, NP_001307409.1:p.Pro50Ser

Select item 139952802620.

rs1399528026 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:37072578 (GRCh38)
21:38444878 (GRCh37)
Canonical SPDI:: NC_000021.9:37072577:G:C
Gene:: TTC3 (Varview), PIGP (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,intron_variant,missense_variant,2KB_upstream_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000021.9:g.37072578G>C, NC_000021.8:g.38444878G>C, NM_153681.2:c.10C>G, NP_710148.1:p.Arg4Gly

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