SNP Links for Protein (Select 115298674) - SNP

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Links from Protein

Items: 1 to 20 of 1000

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Select item 14901021451.

rs1490102145 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 1:235979092 (GRCh38)
1:236142392 (GRCh37)
Canonical SPDI:: NC_000001.11:235979091:A:
Gene:: NID1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.235979092del, NC_000001.10:g.236142392del, NG_033228.1:g.91090del, NM_002508.3:c.3525del, NM_002508.2:c.3525del, NP_002499.2:p.Leu1176fs

Select item 14897664532.

rs1489766453 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 1:235993661 (GRCh38)
1:236156961 (GRCh37)
Canonical SPDI:: NC_000001.11:235993660:G:A,NC_000001.11:235993660:G:C,NC_000001.11:235993660:G:T
Gene:: NID1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.00007/1 (TOMMO)
HGVS:: NC_000001.11:g.235993661G>A, NC_000001.11:g.235993661G>C, NC_000001.11:g.235993661G>T, NC_000001.10:g.236156961G>A, NC_000001.10:g.236156961G>C, NC_000001.10:g.236156961G>T, NG_033228.1:g.76521C>T, NG_033228.1:g.76521C>G, NG_033228.1:g.76521C>A, NM_002508.3:c.2739C>T, NM_002508.3:c.2739C>G, NM_002508.3:c.2739C>A, NM_002508.2:c.2739C>T, NM_002508.2:c.2739C>G, NM_002508.2:c.2739C>A

Select item 14890139693.

rs1489013969 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:236011983 (GRCh38)
1:236175283 (GRCh37)
Canonical SPDI:: NC_000001.11:236011982:C:G
Gene:: NID1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.236011983C>G, NC_000001.10:g.236175283C>G, NG_033228.1:g.58199G>C, NM_002508.3:c.2465G>C, NM_002508.2:c.2465G>C, NP_002499.2:p.Gly822Ala

Select item 14859711344.

rs1485971134 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:236042014 (GRCh38)
1:236205314 (GRCh37)
Canonical SPDI:: NC_000001.11:236042013:C:A
Gene:: NID1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.236042014C>A, NC_000001.10:g.236205314C>A, NG_033228.1:g.28168G>T, NM_002508.3:c.1031G>T, NM_002508.2:c.1031G>T, NP_002499.2:p.Gly344Val

Select item 14843336485.

rs1484333648 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:236013520 (GRCh38)
1:236176820 (GRCh37)
Canonical SPDI:: NC_000001.11:236013519:G:A
Gene:: NID1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.236013520G>A, NC_000001.10:g.236176820G>A, NG_033228.1:g.56662C>T, NM_002508.3:c.2295C>T, NM_002508.2:c.2295C>T

Select item 14841929646.

rs1484192964 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:235977883 (GRCh38)
1:236141183 (GRCh37)
Canonical SPDI:: NC_000001.11:235977882:C:A
Gene:: NID1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.235977883C>A, NC_000001.10:g.236141183C>A, NG_033228.1:g.92299G>T, NM_002508.3:c.3728G>T, NM_002508.2:c.3728G>T, NP_002499.2:p.Cys1243Phe

Select item 14841510197.

rs1484151019 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:236048719 (GRCh38)
1:236212019 (GRCh37)
Canonical SPDI:: NC_000001.11:236048718:G:A
Gene:: NID1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.236048719G>A, NC_000001.10:g.236212019G>A, NG_033228.1:g.21463C>T, NM_002508.3:c.496C>T, NM_002508.2:c.496C>T, NP_002499.2:p.Pro166Ser

Select item 14839778638.

rs1483977863 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:236041946 (GRCh38)
1:236205246 (GRCh37)
Canonical SPDI:: NC_000001.11:236041945:C:G,NC_000001.11:236041945:C:T
Gene:: NID1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.236041946C>G, NC_000001.11:g.236041946C>T, NC_000001.10:g.236205246C>G, NC_000001.10:g.236205246C>T, NG_033228.1:g.28236G>C, NG_033228.1:g.28236G>A, NM_002508.3:c.1099G>C, NM_002508.3:c.1099G>A, NM_002508.2:c.1099G>C, NM_002508.2:c.1099G>A, NP_002499.2:p.Val367Leu, NP_002499.2:p.Val367Ile

Select item 14838778309.

rs1483877830 [Homo sapiens]

Variant type:: DEL
Alleles:: TTT>- [Show Flanks]
Chromosome:: 1:236045583 (GRCh38)
1:236208883 (GRCh37)
Canonical SPDI:: NC_000001.11:236045582:TTT:
Gene:: NID1 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (GnomAD_exomes)
-=0.000026/7 (TOPMED)
-=0.00008/1 (GoESP)
HGVS:: NC_000001.11:g.236045583_236045585del, NC_000001.10:g.236208883_236208885del, NG_033228.1:g.24597_24599del, NM_002508.3:c.624_626del, NM_002508.2:c.624_626del, NP_002499.2:p.Lys210del

Select item 148368015210.

rs1483680152 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:236041964 (GRCh38)
1:236205265 (GRCh37)
Canonical SPDI:: NC_000001.11:236041964:AAAA:AAAAA
Gene:: NID1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.236041968dup, NC_000001.10:g.236205268dup, NG_033228.1:g.28217dup, NM_002508.3:c.1080dup, NM_002508.2:c.1080dup, NP_002499.2:p.His361fs

Select item 148355223311.

rs1483552233 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:236048821 (GRCh38)
1:236212121 (GRCh37)
Canonical SPDI:: NC_000001.11:236048820:G:T
Gene:: NID1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.236048821G>T, NC_000001.10:g.236212121G>T, NG_033228.1:g.21361C>A, NM_002508.3:c.394C>A, NM_002508.2:c.394C>A, NP_002499.2:p.Gln132Lys

Select item 148350908312.

rs1483509083 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:236064989 (GRCh38)
1:236228289 (GRCh37)
Canonical SPDI:: NC_000001.11:236064988:G:A,NC_000001.11:236064988:G:T
Gene:: NID1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.236064989G>A, NC_000001.11:g.236064989G>T, NC_000001.10:g.236228289G>A, NC_000001.10:g.236228289G>T, NG_033228.1:g.5193C>T, NG_033228.1:g.5193C>A, NM_002508.3:c.91C>T, NM_002508.3:c.91C>A, NM_002508.2:c.91C>T, NM_002508.2:c.91C>A, NP_002499.2:p.Arg31Cys, NP_002499.2:p.Arg31Ser

Select item 148348401713.

rs1483484017 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:235979837 (GRCh38)
1:236143137 (GRCh37)
Canonical SPDI:: NC_000001.11:235979836:A:G
Gene:: NID1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.235979837A>G, NC_000001.10:g.236143137A>G, NG_033228.1:g.90345T>C, NM_002508.3:c.3494T>C, NM_002508.2:c.3494T>C, NP_002499.2:p.Phe1165Ser

Select item 148158872114.

rs1481588721 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:235979063 (GRCh38)
1:236142363 (GRCh37)
Canonical SPDI:: NC_000001.11:235979062:T:A
Gene:: NID1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.235979063T>A, NC_000001.10:g.236142363T>A, NG_033228.1:g.91119A>T, NM_002508.3:c.3554A>T, NM_002508.2:c.3554A>T, NP_002499.2:p.Asp1185Val

Select item 148154053815.

rs1481540538 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:236064861 (GRCh38)
1:236228161 (GRCh37)
Canonical SPDI:: NC_000001.11:236064860:T:A,NC_000001.11:236064860:T:C
Gene:: NID1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.236064861T>A, NC_000001.11:g.236064861T>C, NC_000001.10:g.236228161T>A, NC_000001.10:g.236228161T>C, NG_033228.1:g.5321A>T, NG_033228.1:g.5321A>G, NM_002508.3:c.219A>T, NM_002508.3:c.219A>G, NM_002508.2:c.219A>T, NM_002508.2:c.219A>G

Select item 148120213416.

rs1481202134 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:235993790 (GRCh38)
1:236157090 (GRCh37)
Canonical SPDI:: NC_000001.11:235993789:A:G
Gene:: NID1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.235993790A>G, NC_000001.10:g.236157090A>G, NG_033228.1:g.76392T>C, NM_002508.3:c.2610T>C, NM_002508.2:c.2610T>C

Select item 148102309817.

rs1481023098 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:235990975 (GRCh38)
1:236154275 (GRCh37)
Canonical SPDI:: NC_000001.11:235990974:G:A
Gene:: NID1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.235990975G>A, NC_000001.10:g.236154275G>A, NG_033228.1:g.79207C>T, NM_002508.3:c.2839C>T, NM_002508.2:c.2839C>T, NP_002499.2:p.Leu947Phe

Select item 148094261418.

rs1480942614 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:235985462 (GRCh38)
1:236148762 (GRCh37)
Canonical SPDI:: NC_000001.11:235985461:A:G
Gene:: NID1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.235985462A>G, NC_000001.10:g.236148762A>G, NG_033228.1:g.84720T>C, NM_002508.3:c.2972T>C, NM_002508.2:c.2972T>C, NP_002499.2:p.Met991Thr

Select item 148070973119.

rs1480709731 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:236032652 (GRCh38)
1:236195952 (GRCh37)
Canonical SPDI:: NC_000001.11:236032651:C:A,NC_000001.11:236032651:C:T
Gene:: NID1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.236032652C>A, NC_000001.11:g.236032652C>T, NC_000001.10:g.236195952C>A, NC_000001.10:g.236195952C>T, NG_033228.1:g.37530G>T, NG_033228.1:g.37530G>A, NM_002508.3:c.1286G>T, NM_002508.3:c.1286G>A, NM_002508.2:c.1286G>T, NM_002508.2:c.1286G>A, NP_002499.2:p.Gly429Val, NP_002499.2:p.Gly429Asp

Select item 148037019620.

rs1480370196 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:236024130 (GRCh38)
1:236187430 (GRCh37)
Canonical SPDI:: NC_000001.11:236024129:T:C
Gene:: NID1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.236024130T>C, NC_000001.10:g.236187430T>C, NG_033228.1:g.46052A>G, NM_002508.3:c.2068A>G, NM_002508.2:c.2068A>G, NP_002499.2:p.Arg690Gly

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