SNP Links for Protein (Select 768010516) - SNP

Links from Protein

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Select item 14822274691.

rs1482227469 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:41848465 (GRCh38)
19:42352533 (GRCh37)
Canonical SPDI:: NC_000019.10:41848464:C:T
Gene:: DMRTC2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.41848465C>T, NW_004775434.1:g.417504C>T, NC_000019.9:g.42352533C>T, XM_017027127.3:c.384C>T, XM_017027127.2:c.384C>T, XM_017027127.1:c.384C>T, XM_017027124.3:c.393C>T, XM_017027124.2:c.393C>T, XM_017027124.1:c.393C>T, XM_017027126.3:c.384C>T, XM_017027126.2:c.384C>T, XM_017027126.1:c.384C>T, NM_001040283.3:c.384C>T, NM_001040283.2:c.384C>T, NM_001040283.1:c.384C>T, XM_011527216.3:c.399C>T, XM_011527216.2:c.399C>T, XM_011527216.1:c.399C>T, XM_017027123.2:c.399C>T, XM_017027123.1:c.399C>T, XM_017027128.2:c.384C>T, XM_017027128.1:c.384C>T, XM_017027125.2:c.384C>T, XM_017027125.1:c.384C>T, XM_017027129.2:c.399C>T, XM_017027129.1:c.399C>T, NM_033052.1:c.384C>T

Select item 14667723102.

rs1466772310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:41848776 (GRCh38)
19:42352844 (GRCh37)
Canonical SPDI:: NC_000019.10:41848775:G:A,NC_000019.10:41848775:G:C
Gene:: DMRTC2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.41848776G>A, NC_000019.10:g.41848776G>C, NW_004775434.1:g.417815G>A, NW_004775434.1:g.417815G>C, NC_000019.9:g.42352844G>A, NC_000019.9:g.42352844G>C, XM_011527216.3:c.484G>A, XM_011527216.3:c.484G>C, XM_011527216.2:c.484G>A, XM_011527216.2:c.484G>C, XM_011527216.1:c.484G>A, XM_011527216.1:c.484G>C, NM_033052.1:c.469G>A, NM_033052.1:c.469G>C, XP_011525518.1:p.Val162Met, XP_011525518.1:p.Val162Leu

Select item 14625297113.

rs1462529711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:41846054 (GRCh38)
19:42350118 (GRCh37)
Canonical SPDI:: NC_000019.10:41846053:G:A
Gene:: DMRTC2 (Varview), LYPD4 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000036/5 (GnomAD)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000019.10:g.41846054G>A, NW_004775434.1:g.415093G>A, NC_000019.9:g.42350118G>A, XM_011527216.3:c.11G>A, XM_011527216.2:c.11G>A, XM_011527216.1:c.11G>A, XM_017027123.2:c.11G>A, XM_017027123.1:c.11G>A, XM_017027129.2:c.11G>A, XM_017027129.1:c.11G>A, XP_011525518.1:p.Arg4Lys, XP_016882612.1:p.Arg4Lys, XP_016882618.1:p.Arg4Lys

Select item 14560645144.

rs1456064514 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:41847601 (GRCh38)
19:42351669 (GRCh37)
Canonical SPDI:: NC_000019.10:41847600:A:G
Gene:: DMRTC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.41847601A>G, NW_004775434.1:g.416640A>G, NC_000019.9:g.42351669A>G, XM_017027127.3:c.173A>G, XM_017027127.2:c.173A>G, XM_017027127.1:c.173A>G, XM_017027124.3:c.182A>G, XM_017027124.2:c.182A>G, XM_017027124.1:c.182A>G, XM_017027126.3:c.173A>G, XM_017027126.2:c.173A>G, XM_017027126.1:c.173A>G, NM_001040283.3:c.173A>G, NM_001040283.2:c.173A>G, NM_001040283.1:c.173A>G, XM_011527216.3:c.188A>G, XM_011527216.2:c.188A>G, XM_011527216.1:c.188A>G, XM_017027123.2:c.188A>G, XM_017027123.1:c.188A>G, XM_017027128.2:c.173A>G, XM_017027128.1:c.173A>G, XM_017027125.2:c.173A>G, XM_017027125.1:c.173A>G, XM_017027129.2:c.188A>G, XM_017027129.1:c.188A>G, NM_033052.1:c.173A>G, XP_016882616.1:p.Lys58Arg, XP_016882613.1:p.Lys61Arg, XP_016882615.1:p.Lys58Arg, NP_001035373.1:p.Lys58Arg, XP_011525518.1:p.Lys63Arg, XP_016882612.1:p.Lys63Arg, XP_016882617.1:p.Lys58Arg, XP_016882614.1:p.Lys58Arg, XP_016882618.1:p.Lys63Arg

Select item 14508611435.

rs1450861143 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:41847805 (GRCh38)
19:42351873 (GRCh37)
Canonical SPDI:: NC_000019.10:41847804:C:A,NC_000019.10:41847804:C:T
Gene:: DMRTC2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00006/2 (ALFA)
HGVS:: NC_000019.10:g.41847805C>A, NC_000019.10:g.41847805C>T, NW_004775434.1:g.416844C>A, NW_004775434.1:g.416844C>T, NC_000019.9:g.42351873C>A, NC_000019.9:g.42351873C>T, XM_017027127.3:c.294C>A, XM_017027127.3:c.294C>T, XM_017027127.2:c.294C>A, XM_017027127.2:c.294C>T, XM_017027127.1:c.294C>A, XM_017027127.1:c.294C>T, XM_017027124.3:c.303C>A, XM_017027124.3:c.303C>T, XM_017027124.2:c.303C>A, XM_017027124.2:c.303C>T, XM_017027124.1:c.303C>A, XM_017027124.1:c.303C>T, XM_017027126.3:c.294C>A, XM_017027126.3:c.294C>T, XM_017027126.2:c.294C>A, XM_017027126.2:c.294C>T, XM_017027126.1:c.294C>A, XM_017027126.1:c.294C>T, NM_001040283.3:c.294C>A, NM_001040283.3:c.294C>T, NM_001040283.2:c.294C>A, NM_001040283.2:c.294C>T, NM_001040283.1:c.294C>A, NM_001040283.1:c.294C>T, XM_011527216.3:c.309C>A, XM_011527216.3:c.309C>T, XM_011527216.2:c.309C>A, XM_011527216.2:c.309C>T, XM_011527216.1:c.309C>A, XM_011527216.1:c.309C>T, XM_017027123.2:c.309C>A, XM_017027123.2:c.309C>T, XM_017027123.1:c.309C>A, XM_017027123.1:c.309C>T, XM_017027128.2:c.294C>A, XM_017027128.2:c.294C>T, XM_017027128.1:c.294C>A, XM_017027128.1:c.294C>T, XM_017027125.2:c.294C>A, XM_017027125.2:c.294C>T, XM_017027125.1:c.294C>A, XM_017027125.1:c.294C>T, XM_017027129.2:c.309C>A, XM_017027129.2:c.309C>T, XM_017027129.1:c.309C>A, XM_017027129.1:c.309C>T, NM_033052.1:c.294C>A, NM_033052.1:c.294C>T, XP_016882616.1:p.His98Gln, XP_016882613.1:p.His101Gln, XP_016882615.1:p.His98Gln, NP_001035373.1:p.His98Gln, XP_011525518.1:p.His103Gln, XP_016882612.1:p.His103Gln, XP_016882617.1:p.His98Gln, XP_016882614.1:p.His98Gln, XP_016882618.1:p.His103Gln

Select item 14485402526.

rs1448540252 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:41847878 (GRCh38)
19:42351946 (GRCh37)
Canonical SPDI:: NC_000019.10:41847877:C:G
Gene:: DMRTC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.41847878C>G, NW_004775434.1:g.416917C>G, NC_000019.9:g.42351946C>G, XM_017027127.3:c.367C>G, XM_017027127.2:c.367C>G, XM_017027127.1:c.367C>G, XM_017027124.3:c.376C>G, XM_017027124.2:c.376C>G, XM_017027124.1:c.376C>G, XM_017027126.3:c.367C>G, XM_017027126.2:c.367C>G, XM_017027126.1:c.367C>G, NM_001040283.3:c.367C>G, NM_001040283.2:c.367C>G, NM_001040283.1:c.367C>G, XM_011527216.3:c.382C>G, XM_011527216.2:c.382C>G, XM_011527216.1:c.382C>G, XM_017027123.2:c.382C>G, XM_017027123.1:c.382C>G, XM_017027128.2:c.367C>G, XM_017027128.1:c.367C>G, XM_017027125.2:c.367C>G, XM_017027125.1:c.367C>G, XM_017027129.2:c.382C>G, XM_017027129.1:c.382C>G, NM_033052.1:c.367C>G, XP_016882616.1:p.Pro123Ala, XP_016882613.1:p.Pro126Ala, XP_016882615.1:p.Pro123Ala, NP_001035373.1:p.Pro123Ala, XP_011525518.1:p.Pro128Ala, XP_016882612.1:p.Pro128Ala, XP_016882617.1:p.Pro123Ala, XP_016882614.1:p.Pro123Ala, XP_016882618.1:p.Pro128Ala

Select item 14395328017.

rs1439532801 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:41847451 (GRCh38)
19:42351519 (GRCh37)
Canonical SPDI:: NC_000019.10:41847450:C:G
Gene:: DMRTC2 (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_000019.10:g.41847451C>G, NW_004775434.1:g.416490C>G, NC_000019.9:g.42351519C>G, XM_017027127.3:c.23C>G, XM_017027127.2:c.23C>G, XM_017027127.1:c.23C>G, XM_017027124.3:c.32C>G, XM_017027124.2:c.32C>G, XM_017027124.1:c.32C>G, XM_017027126.3:c.23C>G, XM_017027126.2:c.23C>G, XM_017027126.1:c.23C>G, NM_001040283.3:c.23C>G, NM_001040283.2:c.23C>G, NM_001040283.1:c.23C>G, XM_011527216.3:c.38C>G, XM_011527216.2:c.38C>G, XM_011527216.1:c.38C>G, XM_017027123.2:c.38C>G, XM_017027123.1:c.38C>G, XM_017027128.2:c.23C>G, XM_017027128.1:c.23C>G, XM_017027125.2:c.23C>G, XM_017027125.1:c.23C>G, XM_017027129.2:c.38C>G, XM_017027129.1:c.38C>G, NM_033052.1:c.23C>G, XP_016882616.1:p.Ala8Gly, XP_016882613.1:p.Ala11Gly, XP_016882615.1:p.Ala8Gly, NP_001035373.1:p.Ala8Gly, XP_011525518.1:p.Ala13Gly, XP_016882612.1:p.Ala13Gly, XP_016882617.1:p.Ala8Gly, XP_016882614.1:p.Ala8Gly, XP_016882618.1:p.Ala13Gly

Select item 14382812138.

rs1438281213 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGC>- [Show Flanks]
Chromosome:: 19:41848771 (GRCh38)
19:42352839 (GRCh37)
Canonical SPDI:: NC_000019.10:41848769:CAGC:C
Gene:: DMRTC2 (Varview)
Functional Consequence:: intron_variant,inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.41848771_41848773del, NW_004775434.1:g.417810_417812del, NC_000019.9:g.42352839_42352841del, XM_011527216.3:c.479_481del, XM_011527216.2:c.479_481del, XM_011527216.1:c.479_481del, NM_033052.1:c.464_466del, XP_011525518.1:p.Gln160del

Select item 14347407859.

rs1434740785 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:41847863 (GRCh38)
19:42351931 (GRCh37)
Canonical SPDI:: NC_000019.10:41847862:A:G
Gene:: DMRTC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000005/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.41847863A>G, NW_004775434.1:g.416902A>G, NC_000019.9:g.42351931A>G, XM_017027127.3:c.352A>G, XM_017027127.2:c.352A>G, XM_017027127.1:c.352A>G, XM_017027124.3:c.361A>G, XM_017027124.2:c.361A>G, XM_017027124.1:c.361A>G, XM_017027126.3:c.352A>G, XM_017027126.2:c.352A>G, XM_017027126.1:c.352A>G, NM_001040283.3:c.352A>G, NM_001040283.2:c.352A>G, NM_001040283.1:c.352A>G, XM_011527216.3:c.367A>G, XM_011527216.2:c.367A>G, XM_011527216.1:c.367A>G, XM_017027123.2:c.367A>G, XM_017027123.1:c.367A>G, XM_017027128.2:c.352A>G, XM_017027128.1:c.352A>G, XM_017027125.2:c.352A>G, XM_017027125.1:c.352A>G, XM_017027129.2:c.367A>G, XM_017027129.1:c.367A>G, NM_033052.1:c.352A>G, XP_016882616.1:p.Thr118Ala, XP_016882613.1:p.Thr121Ala, XP_016882615.1:p.Thr118Ala, NP_001035373.1:p.Thr118Ala, XP_011525518.1:p.Thr123Ala, XP_016882612.1:p.Thr123Ala, XP_016882617.1:p.Thr118Ala, XP_016882614.1:p.Thr118Ala, XP_016882618.1:p.Thr123Ala

Select item 142150466310.

rs1421504663 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:41847474 (GRCh38)
19:42351542 (GRCh37)
Canonical SPDI:: NC_000019.10:41847473:T:C
Gene:: DMRTC2 (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_000019.10:g.41847474T>C, NW_004775434.1:g.416513T>C, NC_000019.9:g.42351542T>C, XM_017027127.3:c.46T>C, XM_017027127.2:c.46T>C, XM_017027127.1:c.46T>C, XM_017027124.3:c.55T>C, XM_017027124.2:c.55T>C, XM_017027124.1:c.55T>C, XM_017027126.3:c.46T>C, XM_017027126.2:c.46T>C, XM_017027126.1:c.46T>C, NM_001040283.3:c.46T>C, NM_001040283.2:c.46T>C, NM_001040283.1:c.46T>C, XM_011527216.3:c.61T>C, XM_011527216.2:c.61T>C, XM_011527216.1:c.61T>C, XM_017027123.2:c.61T>C, XM_017027123.1:c.61T>C, XM_017027128.2:c.46T>C, XM_017027128.1:c.46T>C, XM_017027125.2:c.46T>C, XM_017027125.1:c.46T>C, XM_017027129.2:c.61T>C, XM_017027129.1:c.61T>C, NM_033052.1:c.46T>C, XP_016882616.1:p.Ser16Pro, XP_016882613.1:p.Ser19Pro, XP_016882615.1:p.Ser16Pro, NP_001035373.1:p.Ser16Pro, XP_011525518.1:p.Ser21Pro, XP_016882612.1:p.Ser21Pro, XP_016882617.1:p.Ser16Pro, XP_016882614.1:p.Ser16Pro, XP_016882618.1:p.Ser21Pro

Select item 142085234711.

rs1420852347 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 19:41847434 (GRCh38)
19:42351502 (GRCh37)
Canonical SPDI:: NC_000019.10:41847433:A:C,NC_000019.10:41847433:A:T
Gene:: DMRTC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
C=0.001092/2 (Korea1K)
HGVS:: NC_000019.10:g.41847434A>C, NC_000019.10:g.41847434A>T, NW_004775434.1:g.416473A>C, NW_004775434.1:g.416473A>T, NC_000019.9:g.42351502A>C, NC_000019.9:g.42351502A>T, XM_017027127.3:c.6A>C, XM_017027127.3:c.6A>T, XM_017027127.2:c.6A>C, XM_017027127.2:c.6A>T, XM_017027127.1:c.6A>C, XM_017027127.1:c.6A>T, XM_017027124.3:c.15A>C, XM_017027124.3:c.15A>T, XM_017027124.2:c.15A>C, XM_017027124.2:c.15A>T, XM_017027124.1:c.15A>C, XM_017027124.1:c.15A>T, XM_017027126.3:c.6A>C, XM_017027126.3:c.6A>T, XM_017027126.2:c.6A>C, XM_017027126.2:c.6A>T, XM_017027126.1:c.6A>C, XM_017027126.1:c.6A>T, NM_001040283.3:c.6A>C, NM_001040283.3:c.6A>T, NM_001040283.2:c.6A>C, NM_001040283.2:c.6A>T, NM_001040283.1:c.6A>C, NM_001040283.1:c.6A>T, XM_011527216.3:c.21A>C, XM_011527216.3:c.21A>T, XM_011527216.2:c.21A>C, XM_011527216.2:c.21A>T, XM_011527216.1:c.21A>C, XM_011527216.1:c.21A>T, XM_017027123.2:c.21A>C, XM_017027123.2:c.21A>T, XM_017027123.1:c.21A>C, XM_017027123.1:c.21A>T, XM_017027128.2:c.6A>C, XM_017027128.2:c.6A>T, XM_017027128.1:c.6A>C, XM_017027128.1:c.6A>T, XM_017027125.2:c.6A>C, XM_017027125.2:c.6A>T, XM_017027125.1:c.6A>C, XM_017027125.1:c.6A>T, XM_017027129.2:c.21A>C, XM_017027129.2:c.21A>T, XM_017027129.1:c.21A>C, XM_017027129.1:c.21A>T, NM_033052.1:c.6A>C, NM_033052.1:c.6A>T, XP_016882616.1:p.Glu2Asp, XP_016882616.1:p.Glu2Asp, XP_016882613.1:p.Glu5Asp, XP_016882613.1:p.Glu5Asp, XP_016882615.1:p.Glu2Asp, XP_016882615.1:p.Glu2Asp, NP_001035373.1:p.Glu2Asp, NP_001035373.1:p.Glu2Asp, XP_011525518.1:p.Glu7Asp, XP_011525518.1:p.Glu7Asp, XP_016882612.1:p.Glu7Asp, XP_016882612.1:p.Glu7Asp, XP_016882617.1:p.Glu2Asp, XP_016882617.1:p.Glu2Asp, XP_016882614.1:p.Glu2Asp, XP_016882614.1:p.Glu2Asp, XP_016882618.1:p.Glu7Asp, XP_016882618.1:p.Glu7Asp

Select item 141795949812.

rs1417959498 has merged into rs782498662 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>-,GAGGAG [Show Flanks]
Chromosome:: 19:41848460 (GRCh38)
19:42352528 (GRCh37)
Canonical SPDI:: NC_000019.10:41848457:AGGAG:AG,NC_000019.10:41848457:AGGAG:AGGAGGAG
Gene:: DMRTC2 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0.000024/2 (ALFA)
-=0.000026/7 (TOPMED)
-=0.000031/7 (GnomAD_exomes)
-=0.000036/5 (GnomAD)
-=0.000053/3 (ExAC)
-=0.000156/1 (1000Genomes)
-=0.000446/2 (Estonian)
HGVS:: NC_000019.10:g.41848460_41848462del, NC_000019.10:g.41848460_41848462dup, NW_004775434.1:g.417499_417501del, NW_004775434.1:g.417499_417501dup, NC_000019.9:g.42352528_42352530del, NC_000019.9:g.42352528_42352530dup, XM_017027127.3:c.379_381del, XM_017027127.3:c.379_381dup, XM_017027127.2:c.379_381del, XM_017027127.2:c.379_381dup, XM_017027127.1:c.379_381del, XM_017027127.1:c.379_381dup, XM_017027124.3:c.388_390del, XM_017027124.3:c.388_390dup, XM_017027124.2:c.388_390del, XM_017027124.2:c.388_390dup, XM_017027124.1:c.388_390del, XM_017027124.1:c.388_390dup, XM_017027126.3:c.379_381del, XM_017027126.3:c.379_381dup, XM_017027126.2:c.379_381del, XM_017027126.2:c.379_381dup, XM_017027126.1:c.379_381del, XM_017027126.1:c.379_381dup, NM_001040283.3:c.379_381del, NM_001040283.3:c.379_381dup, NM_001040283.2:c.379_381del, NM_001040283.2:c.379_381dup, NM_001040283.1:c.379_381del, NM_001040283.1:c.379_381dup, XM_011527216.3:c.394_396del, XM_011527216.3:c.394_396dup, XM_011527216.2:c.394_396del, XM_011527216.2:c.394_396dup, XM_011527216.1:c.394_396del, XM_011527216.1:c.394_396dup, XM_017027123.2:c.394_396del, XM_017027123.2:c.394_396dup, XM_017027123.1:c.394_396del, XM_017027123.1:c.394_396dup, XM_017027128.2:c.379_381del, XM_017027128.2:c.379_381dup, XM_017027128.1:c.379_381del, XM_017027128.1:c.379_381dup, XM_017027125.2:c.379_381del, XM_017027125.2:c.379_381dup, XM_017027125.1:c.379_381del, XM_017027125.1:c.379_381dup, XM_017027129.2:c.394_396del, XM_017027129.2:c.394_396dup, XM_017027129.1:c.394_396del, XM_017027129.1:c.394_396dup, NM_033052.1:c.379_381del, NM_033052.1:c.379_381dup, XP_016882616.1:p.Glu127del, XP_016882616.1:p.Glu127dup, XP_016882613.1:p.Glu130del, XP_016882613.1:p.Glu130dup, XP_016882615.1:p.Glu127del, XP_016882615.1:p.Glu127dup, NP_001035373.1:p.Glu127del, NP_001035373.1:p.Glu127dup, XP_011525518.1:p.Glu132del, XP_011525518.1:p.Glu132dup, XP_016882612.1:p.Glu132del, XP_016882612.1:p.Glu132dup, XP_016882617.1:p.Glu127del, XP_016882617.1:p.Glu127dup, XP_016882614.1:p.Glu127del, XP_016882614.1:p.Glu127dup, XP_016882618.1:p.Glu132del, XP_016882618.1:p.Glu132dup

Select item 141727128013.

rs1417271280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:41848780 (GRCh38)
19:42352848 (GRCh37)
Canonical SPDI:: NC_000019.10:41848779:C:T
Gene:: DMRTC2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.41848780C>T, NW_004775434.1:g.417819C>T, NC_000019.9:g.42352848C>T, XM_011527216.3:c.488C>T, XM_011527216.2:c.488C>T, XM_011527216.1:c.488C>T, NM_033052.1:c.473C>T, XP_011525518.1:p.Pro163Leu

Select item 141498680314.

rs1414986803 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:41848917 (GRCh38)
19:42352985 (GRCh37)
Canonical SPDI:: NC_000019.10:41848916:A:C,NC_000019.10:41848916:A:G
Gene:: DMRTC2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
C=0.002183/4 (Korea1K)
HGVS:: NC_000019.10:g.41848917A>C, NC_000019.10:g.41848917A>G, NW_004775434.1:g.417956A>C, NW_004775434.1:g.417956A>G, NC_000019.9:g.42352985A>C, NC_000019.9:g.42352985A>G, XM_017027127.3:c.570A>C, XM_017027127.3:c.570A>G, XM_017027127.2:c.570A>C, XM_017027127.2:c.570A>G, XM_017027127.1:c.570A>C, XM_017027127.1:c.570A>G, XM_017027124.3:c.579A>C, XM_017027124.3:c.579A>G, XM_017027124.2:c.579A>C, XM_017027124.2:c.579A>G, XM_017027124.1:c.579A>C, XM_017027124.1:c.579A>G, XM_017027126.3:c.570A>C, XM_017027126.3:c.570A>G, XM_017027126.2:c.570A>C, XM_017027126.2:c.570A>G, XM_017027126.1:c.570A>C, XM_017027126.1:c.570A>G, NM_001040283.3:c.570A>C, NM_001040283.3:c.570A>G, NM_001040283.2:c.570A>C, NM_001040283.2:c.570A>G, NM_001040283.1:c.570A>C, NM_001040283.1:c.570A>G, XM_011527216.3:c.625A>C, XM_011527216.3:c.625A>G, XM_011527216.2:c.625A>C, XM_011527216.2:c.625A>G, XM_011527216.1:c.625A>C, XM_011527216.1:c.625A>G, XM_017027123.2:c.585A>C, XM_017027123.2:c.585A>G, XM_017027123.1:c.585A>C, XM_017027123.1:c.585A>G, XM_017027128.2:c.570A>C, XM_017027128.2:c.570A>G, XM_017027128.1:c.570A>C, XM_017027128.1:c.570A>G, XM_017027125.2:c.570A>C, XM_017027125.2:c.570A>G, XM_017027125.1:c.570A>C, XM_017027125.1:c.570A>G, XM_017027129.2:c.585A>C, XM_017027129.2:c.585A>G, XM_017027129.1:c.585A>C, XM_017027129.1:c.585A>G, NM_033052.1:c.610A>C, NM_033052.1:c.610A>G, XP_011525518.1:p.Thr209Pro, XP_011525518.1:p.Thr209Ala

Select item 138552348515.

rs1385523485 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:41847744 (GRCh38)
19:42351812 (GRCh37)
Canonical SPDI:: NC_000019.10:41847743:G:A
Gene:: DMRTC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.41847744G>A, NW_004775434.1:g.416783G>A, NC_000019.9:g.42351812G>A, XM_017027127.3:c.233G>A, XM_017027127.2:c.233G>A, XM_017027127.1:c.233G>A, XM_017027124.3:c.242G>A, XM_017027124.2:c.242G>A, XM_017027124.1:c.242G>A, XM_017027126.3:c.233G>A, XM_017027126.2:c.233G>A, XM_017027126.1:c.233G>A, NM_001040283.3:c.233G>A, NM_001040283.2:c.233G>A, NM_001040283.1:c.233G>A, XM_011527216.3:c.248G>A, XM_011527216.2:c.248G>A, XM_011527216.1:c.248G>A, XM_017027123.2:c.248G>A, XM_017027123.1:c.248G>A, XM_017027128.2:c.233G>A, XM_017027128.1:c.233G>A, XM_017027125.2:c.233G>A, XM_017027125.1:c.233G>A, XM_017027129.2:c.248G>A, XM_017027129.1:c.248G>A, NM_033052.1:c.233G>A, XP_016882616.1:p.Arg78His, XP_016882613.1:p.Arg81His, XP_016882615.1:p.Arg78His, NP_001035373.1:p.Arg78His, XP_011525518.1:p.Arg83His, XP_016882612.1:p.Arg83His, XP_016882617.1:p.Arg78His, XP_016882614.1:p.Arg78His, XP_016882618.1:p.Arg83His

Select item 138544952516.

rs1385449525 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:41847463 (GRCh38)
19:42351531 (GRCh37)
Canonical SPDI:: NC_000019.10:41847462:G:C
Gene:: DMRTC2 (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)
C=0.001946/33 (TOMMO)
HGVS:: NC_000019.10:g.41847463G>C, NW_004775434.1:g.416502G>C, NC_000019.9:g.42351531G>C, XM_017027127.3:c.35G>C, XM_017027127.2:c.35G>C, XM_017027127.1:c.35G>C, XM_017027124.3:c.44G>C, XM_017027124.2:c.44G>C, XM_017027124.1:c.44G>C, XM_017027126.3:c.35G>C, XM_017027126.2:c.35G>C, XM_017027126.1:c.35G>C, NM_001040283.3:c.35G>C, NM_001040283.2:c.35G>C, NM_001040283.1:c.35G>C, XM_011527216.3:c.50G>C, XM_011527216.2:c.50G>C, XM_011527216.1:c.50G>C, XM_017027123.2:c.50G>C, XM_017027123.1:c.50G>C, XM_017027128.2:c.35G>C, XM_017027128.1:c.35G>C, XM_017027125.2:c.35G>C, XM_017027125.1:c.35G>C, XM_017027129.2:c.50G>C, XM_017027129.1:c.50G>C, NM_033052.1:c.35G>C, XP_016882616.1:p.Cys12Ser, XP_016882613.1:p.Cys15Ser, XP_016882615.1:p.Cys12Ser, NP_001035373.1:p.Cys12Ser, XP_011525518.1:p.Cys17Ser, XP_016882612.1:p.Cys17Ser, XP_016882617.1:p.Cys12Ser, XP_016882614.1:p.Cys12Ser, XP_016882618.1:p.Cys17Ser

Select item 136975264317.

rs1369752643 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:41848876 (GRCh38)
19:42352944 (GRCh37)
Canonical SPDI:: NC_000019.10:41848875:G:T
Gene:: DMRTC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.41848876G>T, NW_004775434.1:g.417915G>T, NC_000019.9:g.42352944G>T, XM_017027127.3:c.529G>T, XM_017027127.2:c.529G>T, XM_017027127.1:c.529G>T, XM_017027124.3:c.538G>T, XM_017027124.2:c.538G>T, XM_017027124.1:c.538G>T, XM_017027126.3:c.529G>T, XM_017027126.2:c.529G>T, XM_017027126.1:c.529G>T, NM_001040283.3:c.529G>T, NM_001040283.2:c.529G>T, NM_001040283.1:c.529G>T, XM_011527216.3:c.584G>T, XM_011527216.2:c.584G>T, XM_011527216.1:c.584G>T, XM_017027123.2:c.544G>T, XM_017027123.1:c.544G>T, XM_017027128.2:c.529G>T, XM_017027128.1:c.529G>T, XM_017027125.2:c.529G>T, XM_017027125.1:c.529G>T, XM_017027129.2:c.544G>T, XM_017027129.1:c.544G>T, NM_033052.1:c.569G>T, XP_016882616.1:p.Val177Phe, XP_016882613.1:p.Val180Phe, XP_016882615.1:p.Val177Phe, NP_001035373.1:p.Val177Phe, XP_011525518.1:p.Gly195Val, XP_016882612.1:p.Val182Phe, XP_016882617.1:p.Val177Phe, XP_016882614.1:p.Val177Phe, XP_016882618.1:p.Val182Phe

Select item 136277395518.

rs1362773955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:41847446 (GRCh38)
19:42351514 (GRCh37)
Canonical SPDI:: NC_000019.10:41847445:G:A
Gene:: DMRTC2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.41847446G>A, NW_004775434.1:g.416485G>A, NC_000019.9:g.42351514G>A, XM_017027127.3:c.18G>A, XM_017027127.2:c.18G>A, XM_017027127.1:c.18G>A, XM_017027124.3:c.27G>A, XM_017027124.2:c.27G>A, XM_017027124.1:c.27G>A, XM_017027126.3:c.18G>A, XM_017027126.2:c.18G>A, XM_017027126.1:c.18G>A, NM_001040283.3:c.18G>A, NM_001040283.2:c.18G>A, NM_001040283.1:c.18G>A, XM_011527216.3:c.33G>A, XM_011527216.2:c.33G>A, XM_011527216.1:c.33G>A, XM_017027123.2:c.33G>A, XM_017027123.1:c.33G>A, XM_017027128.2:c.18G>A, XM_017027128.1:c.18G>A, XM_017027125.2:c.18G>A, XM_017027125.1:c.18G>A, XM_017027129.2:c.33G>A, XM_017027129.1:c.33G>A, NM_033052.1:c.18G>A, XP_016882616.1:p.Met6Ile, XP_016882613.1:p.Met9Ile, XP_016882615.1:p.Met6Ile, NP_001035373.1:p.Met6Ile, XP_011525518.1:p.Met11Ile, XP_016882612.1:p.Met11Ile, XP_016882617.1:p.Met6Ile, XP_016882614.1:p.Met6Ile, XP_016882618.1:p.Met11Ile

Select item 135993660319.

rs1359936603 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:41847539 (GRCh38)
19:42351607 (GRCh37)
Canonical SPDI:: NC_000019.10:41847538:C:T
Gene:: DMRTC2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.41847539C>T, NW_004775434.1:g.416578C>T, NC_000019.9:g.42351607C>T, XM_017027127.3:c.111C>T, XM_017027127.2:c.111C>T, XM_017027127.1:c.111C>T, XM_017027124.3:c.120C>T, XM_017027124.2:c.120C>T, XM_017027124.1:c.120C>T, XM_017027126.3:c.111C>T, XM_017027126.2:c.111C>T, XM_017027126.1:c.111C>T, NM_001040283.3:c.111C>T, NM_001040283.2:c.111C>T, NM_001040283.1:c.111C>T, XM_011527216.3:c.126C>T, XM_011527216.2:c.126C>T, XM_011527216.1:c.126C>T, XM_017027123.2:c.126C>T, XM_017027123.1:c.126C>T, XM_017027128.2:c.111C>T, XM_017027128.1:c.111C>T, XM_017027125.2:c.111C>T, XM_017027125.1:c.111C>T, XM_017027129.2:c.126C>T, XM_017027129.1:c.126C>T, NM_033052.1:c.111C>T

Select item 135564343020.

rs1355643430 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:41848496 (GRCh38)
19:42352565 (GRCh37)
Canonical SPDI:: NC_000019.10:41848496::T
Gene:: DMRTC2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.41848496_41848497insT, NW_004775434.1:g.417535_417536insT, NC_000019.9:g.42352564_42352565insT, XM_017027127.3:c.415_416insT, XM_017027127.2:c.415_416insT, XM_017027127.1:c.415_416insT, XM_017027124.3:c.424_425insT, XM_017027124.2:c.424_425insT, XM_017027124.1:c.424_425insT, XM_017027126.3:c.415_416insT, XM_017027126.2:c.415_416insT, XM_017027126.1:c.415_416insT, NM_001040283.3:c.415_416insT, NM_001040283.2:c.415_416insT, NM_001040283.1:c.415_416insT, XM_011527216.3:c.430_431insT, XM_011527216.2:c.430_431insT, XM_011527216.1:c.430_431insT, XM_017027123.2:c.430_431insT, XM_017027123.1:c.430_431insT, XM_017027128.2:c.415_416insT, XM_017027128.1:c.415_416insT, XM_017027125.2:c.415_416insT, XM_017027125.1:c.415_416insT, XM_017027129.2:c.430_431insT, XM_017027129.1:c.430_431insT, NM_033052.1:c.415_416insT, XP_016882616.1:p.Ala139fs, XP_016882613.1:p.Ala142fs, XP_016882615.1:p.Ala139fs, NP_001035373.1:p.Ala139fs, XP_011525518.1:p.Ala144fs, XP_016882612.1:p.Ala144fs, XP_016882617.1:p.Ala139fs, XP_016882614.1:p.Ala139fs, XP_016882618.1:p.Ala144fs

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