SNP Links for Protein (Select 767998585) - SNP

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:63961734 (GRCh38)
18:61628968 (GRCh37)
Canonical SPDI:: NC_000018.10:63961733:G:T
Gene:: HMSD (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.00006/1 (TOMMO)
HGVS:: NC_000018.10:g.63961734G>T, NC_000018.9:g.61628968G>T, NG_027807.1:g.17381G>T, NM_001123366.2:c.*1379G>T, XM_011525930.3:c.439G>T, XM_011525930.2:c.439G>T, XM_011525930.1:c.439G>T, XP_011524232.1:p.Val147Phe

Select item 14511859368.

rs1451185936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:63954411 (GRCh38)
18:61621645 (GRCh37)
Canonical SPDI:: NC_000018.10:63954410:C:G
Gene:: HMSD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000018.10:g.63954411C>G, NC_000018.9:g.61621645C>G, NG_027807.1:g.10058C>G, NM_001123366.2:c.76C>G, NM_001123366.1:c.76C>G, XM_011525930.3:c.76C>G, XM_011525930.2:c.76C>G, XM_011525930.1:c.76C>G, XM_017025710.2:c.76C>G, XM_017025710.1:c.76C>G, NP_001116838.1:p.Leu26Val, XP_011524232.1:p.Leu26Val, XP_016881199.1:p.Leu26Val

Select item 14503293069.

rs1450329306 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:63960220 (GRCh38)
18:61627454 (GRCh37)
Canonical SPDI:: NC_000018.10:63960219:T:G
Gene:: HMSD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.63960220T>G, NC_000018.9:g.61627454T>G, NG_027807.1:g.15867T>G, NM_001123366.2:c.285T>G, NM_001123366.1:c.285T>G, XM_011525930.3:c.285T>G, XM_011525930.2:c.285T>G, XM_011525930.1:c.285T>G, XM_017025710.2:c.285T>G, XM_017025710.1:c.285T>G, NP_001116838.1:p.Asn95Lys, XP_011524232.1:p.Asn95Lys, XP_016881199.1:p.Asn95Lys

Select item 144915762610.

rs1449157626 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:63960158 (GRCh38)
18:61627392 (GRCh37)
Canonical SPDI:: NC_000018.10:63960157:G:A
Gene:: HMSD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.63960158G>A, NC_000018.9:g.61627392G>A, NG_027807.1:g.15805G>A, NM_001123366.2:c.223G>A, NM_001123366.1:c.223G>A, XM_011525930.3:c.223G>A, XM_011525930.2:c.223G>A, XM_011525930.1:c.223G>A, XM_017025710.2:c.223G>A, XM_017025710.1:c.223G>A, NP_001116838.1:p.Gly75Ser, XP_011524232.1:p.Gly75Ser, XP_016881199.1:p.Gly75Ser

Select item 144446729511.

rs1444467295 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:63954462 (GRCh38)
18:61621696 (GRCh37)
Canonical SPDI:: NC_000018.10:63954461:C:T
Gene:: HMSD (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.63954462C>T, NC_000018.9:g.61621696C>T, NG_027807.1:g.10109C>T, NM_001123366.2:c.127C>T, NM_001123366.1:c.127C>T, XM_011525930.3:c.127C>T, XM_011525930.2:c.127C>T, XM_011525930.1:c.127C>T, XM_017025710.2:c.127C>T, XM_017025710.1:c.127C>T, NP_001116838.1:p.Gln43Ter, XP_011524232.1:p.Gln43Ter, XP_016881199.1:p.Gln43Ter

Select item 143944516612.

rs1439445166 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 18:63954492 (GRCh38)
18:61621726 (GRCh37)
Canonical SPDI:: NC_000018.10:63954491:G:A,NC_000018.10:63954491:G:T
Gene:: HMSD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000012/3 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000018.10:g.63954492G>A, NC_000018.10:g.63954492G>T, NC_000018.9:g.61621726G>A, NC_000018.9:g.61621726G>T, NG_027807.1:g.10139G>A, NG_027807.1:g.10139G>T, NM_001123366.2:c.157G>A, NM_001123366.2:c.157G>T, NM_001123366.1:c.157G>A, NM_001123366.1:c.157G>T, XM_011525930.3:c.157G>A, XM_011525930.3:c.157G>T, XM_011525930.2:c.157G>A, XM_011525930.2:c.157G>T, XM_011525930.1:c.157G>A, XM_011525930.1:c.157G>T, XM_017025710.2:c.157G>A, XM_017025710.2:c.157G>T, XM_017025710.1:c.157G>A, XM_017025710.1:c.157G>T, NP_001116838.1:p.Asp53Asn, NP_001116838.1:p.Asp53Tyr, XP_011524232.1:p.Asp53Asn, XP_011524232.1:p.Asp53Tyr, XP_016881199.1:p.Asp53Asn, XP_016881199.1:p.Asp53Tyr

Select item 143676948513.

rs1436769485 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 18:63953489 (GRCh38)
18:61620723 (GRCh37)
Canonical SPDI:: NC_000018.10:63953488:A:T
Gene:: HMSD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.63953489A>T, NC_000018.9:g.61620723A>T, NG_027807.1:g.9136A>T, NM_001123366.2:c.34A>T, NM_001123366.1:c.34A>T, XM_011525930.3:c.34A>T, XM_011525930.2:c.34A>T, XM_011525930.1:c.34A>T, XM_017025710.2:c.34A>T, XM_017025710.1:c.34A>T, NP_001116838.1:p.Met12Leu, XP_011524232.1:p.Met12Leu, XP_016881199.1:p.Met12Leu

Select item 143568197214.

rs1435681972 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:63961719 (GRCh38)
18:61628953 (GRCh37)
Canonical SPDI:: NC_000018.10:63961718:C:T
Gene:: HMSD (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.63961719C>T, NC_000018.9:g.61628953C>T, NG_027807.1:g.17366C>T, NM_001123366.2:c.*1364C>T, XM_011525930.3:c.424C>T, XM_011525930.2:c.424C>T, XM_011525930.1:c.424C>T, XP_011524232.1:p.Pro142Ser

Select item 142412362715.

rs1424123627 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:63960210 (GRCh38)
18:61627444 (GRCh37)
Canonical SPDI:: NC_000018.10:63960209:A:G
Gene:: HMSD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.63960210A>G, NC_000018.9:g.61627444A>G, NG_027807.1:g.15857A>G, NM_001123366.2:c.275A>G, NM_001123366.1:c.275A>G, XM_011525930.3:c.275A>G, XM_011525930.2:c.275A>G, XM_011525930.1:c.275A>G, XM_017025710.2:c.275A>G, XM_017025710.1:c.275A>G, NP_001116838.1:p.Asp92Gly, XP_011524232.1:p.Asp92Gly, XP_016881199.1:p.Asp92Gly

Select item 141265513216.

rs1412655132 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 18:63954439 (GRCh38)
18:61621673 (GRCh37)
Canonical SPDI:: NC_000018.10:63954438:A:G,NC_000018.10:63954438:A:T
Gene:: HMSD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.63954439A>G, NC_000018.10:g.63954439A>T, NC_000018.9:g.61621673A>G, NC_000018.9:g.61621673A>T, NG_027807.1:g.10086A>G, NG_027807.1:g.10086A>T, NM_001123366.2:c.104A>G, NM_001123366.2:c.104A>T, NM_001123366.1:c.104A>G, NM_001123366.1:c.104A>T, XM_011525930.3:c.104A>G, XM_011525930.3:c.104A>T, XM_011525930.2:c.104A>G, XM_011525930.2:c.104A>T, XM_011525930.1:c.104A>G, XM_011525930.1:c.104A>T, XM_017025710.2:c.104A>G, XM_017025710.2:c.104A>T, XM_017025710.1:c.104A>G, XM_017025710.1:c.104A>T, NP_001116838.1:p.Asp35Gly, NP_001116838.1:p.Asp35Val, XP_011524232.1:p.Asp35Gly, XP_011524232.1:p.Asp35Val, XP_016881199.1:p.Asp35Gly, XP_016881199.1:p.Asp35Val

Select item 141208633317.

rs1412086333 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:63954535 (GRCh38)
18:61621769 (GRCh37)
Canonical SPDI:: NC_000018.10:63954534:A:G
Gene:: HMSD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.63954535A>G, NC_000018.9:g.61621769A>G, NG_027807.1:g.10182A>G, NM_001123366.2:c.200A>G, NM_001123366.1:c.200A>G, XM_011525930.3:c.200A>G, XM_011525930.2:c.200A>G, XM_011525930.1:c.200A>G, XM_017025710.2:c.200A>G, XM_017025710.1:c.200A>G, NP_001116838.1:p.Glu67Gly, XP_011524232.1:p.Glu67Gly, XP_016881199.1:p.Glu67Gly

Select item 140140875018.

rs1401408750 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:63961770 (GRCh38)
18:61629004 (GRCh37)
Canonical SPDI:: NC_000018.10:63961769:C:T
Gene:: HMSD (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.63961770C>T, NC_000018.9:g.61629004C>T, NG_027807.1:g.17417C>T, NM_001123366.2:c.*1415C>T, XM_011525930.3:c.475C>T, XM_011525930.2:c.475C>T, XM_011525930.1:c.475C>T, XP_011524232.1:p.Pro159Ser

Select item 139520088019.

rs1395200880 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:63953495 (GRCh38)
18:61620729 (GRCh37)
Canonical SPDI:: NC_000018.10:63953494:G:A
Gene:: HMSD (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000018.10:g.63953495G>A, NC_000018.9:g.61620729G>A, NG_027807.1:g.9142G>A, NM_001123366.2:c.40G>A, NM_001123366.1:c.40G>A, XM_011525930.3:c.40G>A, XM_011525930.2:c.40G>A, XM_011525930.1:c.40G>A, XM_017025710.2:c.40G>A, XM_017025710.1:c.40G>A, NP_001116838.1:p.Ala14Thr, XP_011524232.1:p.Ala14Thr, XP_016881199.1:p.Ala14Thr

Select item 138487552520.

rs1384875525 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 18:63960196 (GRCh38)
18:61627430 (GRCh37)
Canonical SPDI:: NC_000018.10:63960195:G:A,NC_000018.10:63960195:G:T
Gene:: HMSD (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000018.10:g.63960196G>A, NC_000018.10:g.63960196G>T, NC_000018.9:g.61627430G>A, NC_000018.9:g.61627430G>T, NG_027807.1:g.15843G>A, NG_027807.1:g.15843G>T, NM_001123366.2:c.261G>A, NM_001123366.2:c.261G>T, NM_001123366.1:c.261G>A, NM_001123366.1:c.261G>T, XM_011525930.3:c.261G>A, XM_011525930.3:c.261G>T, XM_011525930.2:c.261G>A, XM_011525930.2:c.261G>T, XM_011525930.1:c.261G>A, XM_011525930.1:c.261G>T, XM_017025710.2:c.261G>A, XM_017025710.2:c.261G>T, XM_017025710.1:c.261G>A, XM_017025710.1:c.261G>T

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