SNP Links for Protein (Select 39725942) - SNP

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Links from Protein

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Select item 14900663411.

rs1490066341 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 10:100988821 (GRCh38)
10:102748578 (GRCh37)
Canonical SPDI:: NC_000010.11:100988820:TT:T
Gene:: TWNK (Varview), MRPL43 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.100988822del, NC_000010.10:g.102748579del, NG_011646.1:g.3695del, NG_012624.1:g.6287del, NM_021830.5:c.612del, NM_021830.4:c.612del, NM_001163812.2:c.612del, NM_001163812.1:c.612del, NR_160738.1:n.1280del, NR_160742.1:n.1280del, NR_160740.1:n.1280del, NR_160741.1:n.1280del, NP_068602.2:p.Val205fs, NP_001157284.1:p.Val205fs

Select item 14896575182.

rs1489657518 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:100993358 (GRCh38)
10:102753115 (GRCh37)
Canonical SPDI:: NC_000010.11:100993357:A:G
Gene:: TWNK (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.100993358A>G, NC_000010.10:g.102753115A>G, NG_012624.1:g.10823A>G, NM_021830.5:c.1903A>G, NM_021830.4:c.1903A>G, NM_001163812.2:c.*198A>G, NM_001163812.1:c.*198A>G, NM_001163814.2:c.*198A>G, NM_001163814.1:c.*198A>G, NM_001163813.2:c.541A>G, NM_001163813.1:c.541A>G, NR_160738.1:n.2691A>G, NR_160742.1:n.2673A>G, NR_160740.1:n.2553A>G, NR_160741.1:n.2509A>G, NR_160739.1:n.895A>G, NM_001368275.1:c.541A>G, NP_068602.2:p.Lys635Glu, NP_001157285.1:p.Lys181Glu, NP_001355204.1:p.Lys181Glu

Select item 14853354313.

rs1485335431 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:100989855 (GRCh38)
10:102749612 (GRCh37)
Canonical SPDI:: NC_000010.11:100989854:C:T
Gene:: TWNK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.100989855C>T, NC_000010.10:g.102749612C>T, NG_011646.1:g.2661G>A, NG_012624.1:g.7320C>T, NM_021830.5:c.1455C>T, NM_021830.4:c.1455C>T, NM_001163812.2:c.1455C>T, NM_001163812.1:c.1455C>T, NM_001163814.2:c.93C>T, NM_001163814.1:c.93C>T, NM_001163813.2:c.93C>T, NM_001163813.1:c.93C>T, NR_160738.1:n.2123C>T, NR_160742.1:n.2061C>T, NR_160740.1:n.2061C>T, NR_160741.1:n.2061C>T, NR_160739.1:n.283C>T, NM_001368275.1:c.93C>T

Select item 14849397534.

rs1484939753 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:100988225 (GRCh38)
10:102747982 (GRCh37)
Canonical SPDI:: NC_000010.11:100988224:C:G,NC_000010.11:100988224:C:T
Gene:: TWNK (Varview), MRPL43 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.100988225C>G, NC_000010.11:g.100988225C>T, NC_000010.10:g.102747982C>G, NC_000010.10:g.102747982C>T, NG_011646.1:g.4291G>C, NG_011646.1:g.4291G>A, NG_012624.1:g.5690C>G, NG_012624.1:g.5690C>T, NM_021830.5:c.15C>G, NM_021830.5:c.15C>T, NM_021830.4:c.15C>G, NM_021830.4:c.15C>T, NM_001163812.2:c.15C>G, NM_001163812.2:c.15C>T, NM_001163812.1:c.15C>G, NM_001163812.1:c.15C>T, NR_160738.1:n.683C>G, NR_160738.1:n.683C>T, NR_160742.1:n.683C>G, NR_160742.1:n.683C>T, NR_160740.1:n.683C>G, NR_160740.1:n.683C>T, NR_160741.1:n.683C>G, NR_160741.1:n.683C>T

Select item 14836402545.

rs1483640254 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:100989846 (GRCh38)
10:102749603 (GRCh37)
Canonical SPDI:: NC_000010.11:100989845:C:G,NC_000010.11:100989845:C:T
Gene:: TWNK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.100989846C>G, NC_000010.11:g.100989846C>T, NC_000010.10:g.102749603C>G, NC_000010.10:g.102749603C>T, NG_011646.1:g.2670G>C, NG_011646.1:g.2670G>A, NG_012624.1:g.7311C>G, NG_012624.1:g.7311C>T, NM_021830.5:c.1446C>G, NM_021830.5:c.1446C>T, NM_021830.4:c.1446C>G, NM_021830.4:c.1446C>T, NM_001163812.2:c.1446C>G, NM_001163812.2:c.1446C>T, NM_001163812.1:c.1446C>G, NM_001163812.1:c.1446C>T, NM_001163814.2:c.84C>G, NM_001163814.2:c.84C>T, NM_001163814.1:c.84C>G, NM_001163814.1:c.84C>T, NM_001163813.2:c.84C>G, NM_001163813.2:c.84C>T, NM_001163813.1:c.84C>G, NM_001163813.1:c.84C>T, NR_160738.1:n.2114C>G, NR_160738.1:n.2114C>T, NR_160742.1:n.2052C>G, NR_160742.1:n.2052C>T, NR_160740.1:n.2052C>G, NR_160740.1:n.2052C>T, NR_160741.1:n.2052C>G, NR_160741.1:n.2052C>T, NR_160739.1:n.274C>G, NR_160739.1:n.274C>T, NM_001368275.1:c.84C>G, NM_001368275.1:c.84C>T

Select item 14829790896.

rs1482979089 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGTCG>- [Show Flanks]
Chromosome:: 10:100989000 (GRCh38)
10:102748757 (GRCh37)
Canonical SPDI:: NC_000010.11:100988997:CGAGTCG:CG
Gene:: TWNK (Varview), MRPL43 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,stop_gained,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.100989000_100989004del, NC_000010.10:g.102748757_102748761del, NG_011646.1:g.3514_3518del, NG_012624.1:g.6465_6469del, NM_021830.5:c.790_794del, NM_021830.4:c.790_794del, NM_001163812.2:c.790_794del, NM_001163812.1:c.790_794del, NR_160738.1:n.1458_1462del, NR_160742.1:n.1458_1462del, NR_160740.1:n.1458_1462del, NR_160741.1:n.1458_1462del, NP_068602.2:p.Thr263_Ser264insTer, NP_001157284.1:p.Thr263_Ser264insTer

Select item 14808498637.

rs1480849863 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:100988307 (GRCh38)
10:102748064 (GRCh37)
Canonical SPDI:: NC_000010.11:100988306:C:T
Gene:: TWNK (Varview), MRPL43 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.100988307C>T, NC_000010.10:g.102748064C>T, NG_011646.1:g.4209G>A, NG_012624.1:g.5772C>T, NM_021830.5:c.97C>T, NM_021830.4:c.97C>T, NM_001163812.2:c.97C>T, NM_001163812.1:c.97C>T, NR_160738.1:n.765C>T, NR_160742.1:n.765C>T, NR_160740.1:n.765C>T, NR_160741.1:n.765C>T, NP_068602.2:p.Pro33Ser, NP_001157284.1:p.Pro33Ser

Select item 14807177508.

rs1480717750 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:100989206 (GRCh38)
10:102748963 (GRCh37)
Canonical SPDI:: NC_000010.11:100989205:G:T
Gene:: TWNK (Varview), MRPL43 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.100989206G>T, NC_000010.10:g.102748963G>T, NG_011646.1:g.3310C>A, NG_012624.1:g.6671G>T, NM_021830.5:c.996G>T, NM_021830.4:c.996G>T, NM_001163812.2:c.996G>T, NM_001163812.1:c.996G>T, NR_160738.1:n.1664G>T, NR_160742.1:n.1664G>T, NR_160740.1:n.1664G>T, NR_160741.1:n.1664G>T, NP_068602.2:p.Leu332Phe, NP_001157284.1:p.Leu332Phe

Select item 14766011159.

rs1476601115 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:100989867 (GRCh38)
10:102749624 (GRCh37)
Canonical SPDI:: NC_000010.11:100989866:T:C
Gene:: TWNK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.100989867T>C, NC_000010.10:g.102749624T>C, NG_011646.1:g.2649A>G, NG_012624.1:g.7332T>C, NM_021830.5:c.1467T>C, NM_021830.4:c.1467T>C, NM_001163812.2:c.1467T>C, NM_001163812.1:c.1467T>C, NM_001163814.2:c.105T>C, NM_001163814.1:c.105T>C, NM_001163813.2:c.105T>C, NM_001163813.1:c.105T>C, NR_160738.1:n.2135T>C, NR_160742.1:n.2073T>C, NR_160740.1:n.2073T>C, NR_160741.1:n.2073T>C, NR_160739.1:n.295T>C, NM_001368275.1:c.105T>C

Select item 147599122810.

rs1475991228 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:100988543 (GRCh38)
10:102748300 (GRCh37)
Canonical SPDI:: NC_000010.11:100988542:T:C
Gene:: TWNK (Varview), MRPL43 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.100988543T>C, NC_000010.10:g.102748300T>C, NG_011646.1:g.3973A>G, NG_012624.1:g.6008T>C, NM_021830.5:c.333T>C, NM_021830.4:c.333T>C, NM_001163812.2:c.333T>C, NM_001163812.1:c.333T>C, NR_160738.1:n.1001T>C, NR_160742.1:n.1001T>C, NR_160740.1:n.1001T>C, NR_160741.1:n.1001T>C

Select item 147465111111.

rs1474651111 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:100993258 (GRCh38)
10:102753015 (GRCh37)
Canonical SPDI:: NC_000010.11:100993257:G:T
Gene:: TWNK (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.100993258G>T, NC_000010.10:g.102753015G>T, NG_012624.1:g.10723G>T, NM_021830.5:c.1803G>T, NM_021830.4:c.1803G>T, NM_001163812.2:c.*98G>T, NM_001163812.1:c.*98G>T, NM_001163814.2:c.*98G>T, NM_001163814.1:c.*98G>T, NM_001163813.2:c.441G>T, NM_001163813.1:c.441G>T, NR_160738.1:n.2591G>T, NR_160742.1:n.2573G>T, NR_160740.1:n.2453G>T, NR_160741.1:n.2409G>T, NR_160739.1:n.795G>T, NM_001368275.1:c.441G>T

Select item 147402091512.

rs1474020915 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:100989303 (GRCh38)
10:102749060 (GRCh37)
Canonical SPDI:: NC_000010.11:100989302:A:G
Gene:: TWNK (Varview), MRPL43 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.100989303A>G, NC_000010.10:g.102749060A>G, NG_011646.1:g.3213T>C, NG_012624.1:g.6768A>G, NM_021830.5:c.1093A>G, NM_021830.4:c.1093A>G, NM_001163812.2:c.1093A>G, NM_001163812.1:c.1093A>G, NR_160738.1:n.1761A>G, NR_160742.1:n.1761A>G, NR_160740.1:n.1761A>G, NR_160741.1:n.1761A>G, NP_068602.2:p.Lys365Glu, NP_001157284.1:p.Lys365Glu

Select item 146839347313.

rs1468393473 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:100993479 (GRCh38)
10:102753236 (GRCh37)
Canonical SPDI:: NC_000010.11:100993478:A:G
Gene:: TWNK (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.100993479A>G, NC_000010.10:g.102753236A>G, NG_012624.1:g.10944A>G, NM_021830.5:c.2024A>G, NM_021830.4:c.2024A>G, NM_001163812.2:c.*319A>G, NM_001163812.1:c.*319A>G, NM_001163814.2:c.*319A>G, NM_001163814.1:c.*319A>G, NM_001163813.2:c.662A>G, NM_001163813.1:c.662A>G, NR_160738.1:n.2812A>G, NR_160742.1:n.2794A>G, NR_160740.1:n.2674A>G, NR_160741.1:n.2630A>G, NR_160739.1:n.1016A>G, NM_001368275.1:c.662A>G, NP_068602.2:p.Asp675Gly, NP_001157285.1:p.Asp221Gly, NP_001355204.1:p.Asp221Gly

Select item 145974274514.

rs1459742745 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:100988530 (GRCh38)
10:102748287 (GRCh37)
Canonical SPDI:: NC_000010.11:100988529:C:T
Gene:: TWNK (Varview), MRPL43 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant,2KB_upstream_variant
HGVS:: NC_000010.11:g.100988530C>T, NC_000010.10:g.102748287C>T, NG_011646.1:g.3986G>A, NG_012624.1:g.5995C>T, NM_021830.5:c.320C>T, NM_021830.4:c.320C>T, NM_001163812.2:c.320C>T, NM_001163812.1:c.320C>T, NR_160738.1:n.988C>T, NR_160742.1:n.988C>T, NR_160740.1:n.988C>T, NR_160741.1:n.988C>T, NP_068602.2:p.Thr107Ile, NP_001157284.1:p.Thr107Ile

Select item 145798249515.

rs1457982495 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:100990521 (GRCh38)
10:102750278 (GRCh37)
Canonical SPDI:: NC_000010.11:100990520:C:T
Gene:: TWNK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.100990521C>T, NC_000010.10:g.102750278C>T, NG_011646.1:g.1995G>A, NG_012624.1:g.7986C>T, NM_021830.5:c.1570C>T, NM_021830.4:c.1570C>T, NM_001163812.2:c.1570C>T, NM_001163812.1:c.1570C>T, NM_001163814.2:c.208C>T, NM_001163814.1:c.208C>T, NM_001163813.2:c.208C>T, NM_001163813.1:c.208C>T, NR_160738.1:n.2238C>T, NR_160742.1:n.2176C>T, NR_160740.1:n.2176C>T, NR_160741.1:n.2176C>T, NR_160739.1:n.398C>T, NM_001368275.1:c.208C>T, NP_068602.2:p.His524Tyr, NP_001157284.1:p.His524Tyr, NP_001157286.1:p.His70Tyr, NP_001157285.1:p.His70Tyr, NP_001355204.1:p.His70Tyr

Select item 145739919316.

rs1457399193 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:100988845 (GRCh38)
10:102748602 (GRCh37)
Canonical SPDI:: NC_000010.11:100988844:G:A,NC_000010.11:100988844:G:C
Gene:: TWNK (Varview), MRPL43 (Varview)
Functional Consequence:: intron_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.100988845G>A, NC_000010.11:g.100988845G>C, NC_000010.10:g.102748602G>A, NC_000010.10:g.102748602G>C, NG_011646.1:g.3671C>T, NG_011646.1:g.3671C>G, NG_012624.1:g.6310G>A, NG_012624.1:g.6310G>C, NM_021830.5:c.635G>A, NM_021830.5:c.635G>C, NM_021830.4:c.635G>A, NM_021830.4:c.635G>C, NM_001163812.2:c.635G>A, NM_001163812.2:c.635G>C, NM_001163812.1:c.635G>A, NM_001163812.1:c.635G>C, NR_160738.1:n.1303G>A, NR_160738.1:n.1303G>C, NR_160742.1:n.1303G>A, NR_160742.1:n.1303G>C, NR_160740.1:n.1303G>A, NR_160740.1:n.1303G>C, NR_160741.1:n.1303G>A, NR_160741.1:n.1303G>C, NP_068602.2:p.Gly212Glu, NP_068602.2:p.Gly212Ala, NP_001157284.1:p.Gly212Glu, NP_001157284.1:p.Gly212Ala

Select item 145422642317.

rs1454226423 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:100993441 (GRCh38)
10:102753198 (GRCh37)
Canonical SPDI:: NC_000010.11:100993440:G:C
Gene:: TWNK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.100993441G>C, NC_000010.10:g.102753198G>C, NG_012624.1:g.10906G>C, NM_021830.5:c.1986G>C, NM_021830.4:c.1986G>C, NM_001163812.2:c.*281G>C, NM_001163812.1:c.*281G>C, NM_001163814.2:c.*281G>C, NM_001163814.1:c.*281G>C, NM_001163813.2:c.624G>C, NM_001163813.1:c.624G>C, NR_160738.1:n.2774G>C, NR_160742.1:n.2756G>C, NR_160740.1:n.2636G>C, NR_160741.1:n.2592G>C, NR_160739.1:n.978G>C, NM_001368275.1:c.624G>C, NP_068602.2:p.Gln662His, NP_001157285.1:p.Gln208His, NP_001355204.1:p.Gln208His

Select item 145381997218.

rs1453819972 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:100989049 (GRCh38)
10:102748806 (GRCh37)
Canonical SPDI:: NC_000010.11:100989048:C:T
Gene:: TWNK (Varview), MRPL43 (Varview)
Functional Consequence:: intron_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.100989049C>T, NC_000010.10:g.102748806C>T, NG_011646.1:g.3467G>A, NG_012624.1:g.6514C>T, NM_021830.5:c.839C>T, NM_021830.4:c.839C>T, NM_001163812.2:c.839C>T, NM_001163812.1:c.839C>T, NR_160738.1:n.1507C>T, NR_160742.1:n.1507C>T, NR_160740.1:n.1507C>T, NR_160741.1:n.1507C>T, NP_068602.2:p.Thr280Ile, NP_001157284.1:p.Thr280Ile

Select item 145103759619.

rs1451037596 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:100989442 (GRCh38)
10:102749199 (GRCh37)
Canonical SPDI:: NC_000010.11:100989441:C:T
Gene:: TWNK (Varview), MRPL43 (Varview)
Functional Consequence:: intron_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: likely-pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.100989442C>T, NC_000010.10:g.102749199C>T, NG_011646.1:g.3074G>A, NG_012624.1:g.6907C>T, NM_021830.5:c.1232C>T, NM_021830.4:c.1232C>T, NM_001163812.2:c.1232C>T, NM_001163812.1:c.1232C>T, NR_160738.1:n.1900C>T, NR_160742.1:n.1900C>T, NR_160740.1:n.1900C>T, NR_160741.1:n.1900C>T, NP_068602.2:p.Thr411Met, NP_001157284.1:p.Thr411Met

Select item 145025849820.

rs1450258498 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:100988749 (GRCh38)
10:102748506 (GRCh37)
Canonical SPDI:: NC_000010.11:100988748:T:G
Gene:: TWNK (Varview), MRPL43 (Varview)
Functional Consequence:: intron_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.100988749T>G, NC_000010.10:g.102748506T>G, NG_011646.1:g.3767A>C, NG_012624.1:g.6214T>G, NM_021830.5:c.539T>G, NM_021830.4:c.539T>G, NM_001163812.2:c.539T>G, NM_001163812.1:c.539T>G, NR_160738.1:n.1207T>G, NR_160742.1:n.1207T>G, NR_160740.1:n.1207T>G, NR_160741.1:n.1207T>G, NP_068602.2:p.Phe180Cys, NP_001157284.1:p.Phe180Cys

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