SNP Links for Protein (Select 1034645085) - SNP

Select item 14903465561.

rs1490346556 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141864207 (GRCh38)
5:141243772 (GRCh37)
Canonical SPDI:: NC_000005.10:141864206:C:T
Gene:: PCDH1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141864207C>T, NC_000005.9:g.141243772C>T, XM_005268454.6:c.2172G>A, XM_005268454.5:c.2172G>A, XM_005268454.4:c.2256G>A, XM_005268454.3:c.2256G>A, XM_005268454.2:c.2256G>A, XM_005268454.1:c.2256G>A, NM_032420.5:c.2124G>A, NM_032420.4:c.2124G>A, NM_032420.3:c.2124G>A, NM_002587.5:c.2124G>A, NM_002587.4:c.2124G>A, XM_005268452.4:c.2172G>A, XM_005268452.3:c.2172G>A, XM_005268452.2:c.2256G>A, XM_005268452.1:c.2256G>A, XM_017009517.3:c.987G>A, XM_017009517.2:c.987G>A, XM_017009517.1:c.987G>A, NM_001278613.2:c.2172G>A, NM_001278613.1:c.2172G>A, NM_001278615.1:c.987G>A

Select item 14896248292.

rs1489624829 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATCC [Show Flanks]
Chromosome:: 5:141854389 (GRCh38)
5:141233955 (GRCh37)
Canonical SPDI:: NC_000005.10:141854389:CC:CCATCC
Gene:: PCDH1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCATCC=0./0 (ALFA)
HGVS:: NC_000005.10:g.141854391_141854392insATCC, NC_000005.9:g.141233956_141233957insATCC, XM_005268454.6:c.*60_*61insATGG, XM_005268454.5:c.*60_*61insATGG, XM_005268454.4:c.*60_*61insATGG, XM_005268454.3:c.*60_*61insATGG, XM_005268454.2:c.*60_*61insATGG, XM_005268454.1:c.*60_*61insATGG, NM_032420.5:c.3366_3367insATGG, NM_032420.4:c.3366_3367insATGG, NM_032420.3:c.3366_3367insATGG, XM_005268452.4:c.3414_3415insATGG, XM_005268452.3:c.3414_3415insATGG, XM_005268452.2:c.3498_3499insATGG, XM_005268452.1:c.3498_3499insATGG, XM_017009517.3:c.2229_2230insATGG, XM_017009517.2:c.2229_2230insATGG, XM_017009517.1:c.2229_2230insATGG, NP_115796.2:p.Glu1123fs, XP_005268509.2:p.Glu1139fs, XP_016865006.1:p.Glu744fs

Select item 14876946713.

rs1487694671 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:141865179 (GRCh38)
5:141244744 (GRCh37)
Canonical SPDI:: NC_000005.10:141865178:G:T
Gene:: PCDH1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.141865179G>T, NC_000005.9:g.141244744G>T, XM_005268454.6:c.1200C>A, XM_005268454.5:c.1200C>A, XM_005268454.4:c.1284C>A, XM_005268454.3:c.1284C>A, XM_005268454.2:c.1284C>A, XM_005268454.1:c.1284C>A, NM_032420.5:c.1152C>A, NM_032420.4:c.1152C>A, NM_032420.3:c.1152C>A, NM_002587.5:c.1152C>A, NM_002587.4:c.1152C>A, XM_005268452.4:c.1200C>A, XM_005268452.3:c.1200C>A, XM_005268452.2:c.1284C>A, XM_005268452.1:c.1284C>A, XM_017009517.3:c.15C>A, XM_017009517.2:c.15C>A, XM_017009517.1:c.15C>A, NM_001278613.2:c.1200C>A, NM_001278613.1:c.1200C>A, NM_001278615.1:c.15C>A

Select item 14858316134.

rs1485831613 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:141864740 (GRCh38)
5:141244305 (GRCh37)
Canonical SPDI:: NC_000005.10:141864739:T:G
Gene:: PCDH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.141864740T>G, NC_000005.9:g.141244305T>G, XM_005268454.6:c.1639A>C, XM_005268454.5:c.1639A>C, XM_005268454.4:c.1723A>C, XM_005268454.3:c.1723A>C, XM_005268454.2:c.1723A>C, XM_005268454.1:c.1723A>C, NM_032420.5:c.1591A>C, NM_032420.4:c.1591A>C, NM_032420.3:c.1591A>C, NM_002587.5:c.1591A>C, NM_002587.4:c.1591A>C, XM_005268452.4:c.1639A>C, XM_005268452.3:c.1639A>C, XM_005268452.2:c.1723A>C, XM_005268452.1:c.1723A>C, XM_017009517.3:c.454A>C, XM_017009517.2:c.454A>C, XM_017009517.1:c.454A>C, NM_001278613.2:c.1639A>C, NM_001278613.1:c.1639A>C, NM_001278615.1:c.454A>C, XP_005268511.2:p.Ser547Arg, NP_115796.2:p.Ser531Arg, NP_002578.2:p.Ser531Arg, XP_005268509.2:p.Ser547Arg, XP_016865006.1:p.Ser152Arg, NP_001265542.1:p.Ser547Arg, NP_001265544.1:p.Ser152Arg

Select item 14845594485.

rs1484559448 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 5:141854330 (GRCh38)
5:141233895 (GRCh37)
Canonical SPDI:: NC_000005.10:141854329:G:C,NC_000005.10:141854329:G:T
Gene:: PCDH1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141854330G>C, NC_000005.10:g.141854330G>T, NC_000005.9:g.141233895G>C, NC_000005.9:g.141233895G>T, XM_005268454.6:c.*120C>G, XM_005268454.6:c.*120C>A, NM_032420.5:c.3426C>G, NM_032420.5:c.3426C>A, NM_032420.4:c.3426C>G, NM_032420.4:c.3426C>A, NM_032420.3:c.3426C>G, NM_032420.3:c.3426C>A, XM_005268452.4:c.3474C>G, XM_005268452.4:c.3474C>A, XM_005268452.3:c.3474C>G, XM_005268452.3:c.3474C>A, XM_005268452.2:c.3558C>G, XM_005268452.2:c.3558C>A, XM_005268452.1:c.3558C>G, XM_005268452.1:c.3558C>A, XM_017009517.3:c.2289C>G, XM_017009517.3:c.2289C>A, XM_017009517.2:c.2289C>G, XM_017009517.2:c.2289C>A, XM_017009517.1:c.2289C>G, XM_017009517.1:c.2289C>A, NP_115796.2:p.Ser1142Arg, NP_115796.2:p.Ser1142Arg, XP_005268509.2:p.Ser1158Arg, XP_005268509.2:p.Ser1158Arg, XP_016865006.1:p.Ser763Arg, XP_016865006.1:p.Ser763Arg

Select item 14833019196.

rs1483301919 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141863505 (GRCh38)
5:141243070 (GRCh37)
Canonical SPDI:: NC_000005.10:141863504:C:T
Gene:: PCDH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.141863505C>T, NC_000005.9:g.141243070C>T, XM_005268454.6:c.2874G>A, XM_005268454.5:c.2874G>A, XM_005268454.4:c.2958G>A, XM_005268454.3:c.2958G>A, XM_005268454.2:c.2958G>A, XM_005268454.1:c.2958G>A, NM_032420.5:c.2826G>A, NM_032420.4:c.2826G>A, NM_032420.3:c.2826G>A, NM_002587.5:c.2826G>A, NM_002587.4:c.2826G>A, XM_005268452.4:c.2874G>A, XM_005268452.3:c.2874G>A, XM_005268452.2:c.2958G>A, XM_005268452.1:c.2958G>A, XM_017009517.3:c.1689G>A, XM_017009517.2:c.1689G>A, XM_017009517.1:c.1689G>A, NM_001278613.2:c.2874G>A, NM_001278613.1:c.2874G>A, NM_001278615.1:c.1689G>A, XP_005268511.2:p.Met958Ile, NP_115796.2:p.Met942Ile, NP_002578.2:p.Met942Ile, XP_005268509.2:p.Met958Ile, XP_016865006.1:p.Met563Ile, NP_001265542.1:p.Met958Ile, NP_001265544.1:p.Met563Ile

Select item 14832519187.

rs1483251918 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141864408 (GRCh38)
5:141243973 (GRCh37)
Canonical SPDI:: NC_000005.10:141864407:C:T
Gene:: PCDH1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141864408C>T, NC_000005.9:g.141243973C>T, XM_005268454.6:c.1971G>A, XM_005268454.5:c.1971G>A, XM_005268454.4:c.2055G>A, XM_005268454.3:c.2055G>A, XM_005268454.2:c.2055G>A, XM_005268454.1:c.2055G>A, NM_032420.5:c.1923G>A, NM_032420.4:c.1923G>A, NM_032420.3:c.1923G>A, NM_002587.5:c.1923G>A, NM_002587.4:c.1923G>A, XM_005268452.4:c.1971G>A, XM_005268452.3:c.1971G>A, XM_005268452.2:c.2055G>A, XM_005268452.1:c.2055G>A, XM_017009517.3:c.786G>A, XM_017009517.2:c.786G>A, XM_017009517.1:c.786G>A, NM_001278613.2:c.1971G>A, NM_001278613.1:c.1971G>A, NM_001278615.1:c.786G>A

Select item 14822449838.

rs1482244983 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:141863499 (GRCh38)
5:141243064 (GRCh37)
Canonical SPDI:: NC_000005.10:141863498:A:G
Gene:: PCDH1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141863499A>G, NC_000005.9:g.141243064A>G, XM_005268454.6:c.2880T>C, XM_005268454.5:c.2880T>C, XM_005268454.4:c.2964T>C, XM_005268454.3:c.2964T>C, XM_005268454.2:c.2964T>C, XM_005268454.1:c.2964T>C, NM_032420.5:c.2832T>C, NM_032420.4:c.2832T>C, NM_032420.3:c.2832T>C, NM_002587.5:c.2832T>C, NM_002587.4:c.2832T>C, XM_005268452.4:c.2880T>C, XM_005268452.3:c.2880T>C, XM_005268452.2:c.2964T>C, XM_005268452.1:c.2964T>C, XM_017009517.3:c.1695T>C, XM_017009517.2:c.1695T>C, XM_017009517.1:c.1695T>C, NM_001278613.2:c.2880T>C, NM_001278613.1:c.2880T>C, NM_001278615.1:c.1695T>C

Select item 14813612099.

rs1481361209 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141864562 (GRCh38)
5:141244127 (GRCh37)
Canonical SPDI:: NC_000005.10:141864561:G:A
Gene:: PCDH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.00004/1 (TOMMO)
HGVS:: NC_000005.10:g.141864562G>A, NC_000005.9:g.141244127G>A, XM_005268454.6:c.1817C>T, XM_005268454.5:c.1817C>T, XM_005268454.4:c.1901C>T, XM_005268454.3:c.1901C>T, XM_005268454.2:c.1901C>T, XM_005268454.1:c.1901C>T, NM_032420.5:c.1769C>T, NM_032420.4:c.1769C>T, NM_032420.3:c.1769C>T, NM_002587.5:c.1769C>T, NM_002587.4:c.1769C>T, XM_005268452.4:c.1817C>T, XM_005268452.3:c.1817C>T, XM_005268452.2:c.1901C>T, XM_005268452.1:c.1901C>T, XM_017009517.3:c.632C>T, XM_017009517.2:c.632C>T, XM_017009517.1:c.632C>T, NM_001278613.2:c.1817C>T, NM_001278613.1:c.1817C>T, NM_001278615.1:c.632C>T, XP_005268511.2:p.Pro606Leu, NP_115796.2:p.Pro590Leu, NP_002578.2:p.Pro590Leu, XP_005268509.2:p.Pro606Leu, XP_016865006.1:p.Pro211Leu, NP_001265542.1:p.Pro606Leu, NP_001265544.1:p.Pro211Leu

Select item 148135480410.

rs1481354804 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:141864065 (GRCh38)
5:141243630 (GRCh37)
Canonical SPDI:: NC_000005.10:141864064:T:A
Gene:: PCDH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141864065T>A, NC_000005.9:g.141243630T>A, XM_005268454.6:c.2314A>T, XM_005268454.5:c.2314A>T, XM_005268454.4:c.2398A>T, XM_005268454.3:c.2398A>T, XM_005268454.2:c.2398A>T, XM_005268454.1:c.2398A>T, NM_032420.5:c.2266A>T, NM_032420.4:c.2266A>T, NM_032420.3:c.2266A>T, NM_002587.5:c.2266A>T, NM_002587.4:c.2266A>T, XM_005268452.4:c.2314A>T, XM_005268452.3:c.2314A>T, XM_005268452.2:c.2398A>T, XM_005268452.1:c.2398A>T, XM_017009517.3:c.1129A>T, XM_017009517.2:c.1129A>T, XM_017009517.1:c.1129A>T, NM_001278613.2:c.2314A>T, NM_001278613.1:c.2314A>T, NM_001278615.1:c.1129A>T, XP_005268511.2:p.Ile772Phe, NP_115796.2:p.Ile756Phe, NP_002578.2:p.Ile756Phe, XP_005268509.2:p.Ile772Phe, XP_016865006.1:p.Ile377Phe, NP_001265542.1:p.Ile772Phe, NP_001265544.1:p.Ile377Phe

Select item 147428287511.

rs1474282875 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141864542 (GRCh38)
5:141244107 (GRCh37)
Canonical SPDI:: NC_000005.10:141864541:T:C
Gene:: PCDH1 (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=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141864542T>C, NC_000005.9:g.141244107T>C, XM_005268454.6:c.1837A>G, XM_005268454.5:c.1837A>G, XM_005268454.4:c.1921A>G, XM_005268454.3:c.1921A>G, XM_005268454.2:c.1921A>G, XM_005268454.1:c.1921A>G, NM_032420.5:c.1789A>G, NM_032420.4:c.1789A>G, NM_032420.3:c.1789A>G, NM_002587.5:c.1789A>G, NM_002587.4:c.1789A>G, XM_005268452.4:c.1837A>G, XM_005268452.3:c.1837A>G, XM_005268452.2:c.1921A>G, XM_005268452.1:c.1921A>G, XM_017009517.3:c.652A>G, XM_017009517.2:c.652A>G, XM_017009517.1:c.652A>G, NM_001278613.2:c.1837A>G, NM_001278613.1:c.1837A>G, NM_001278615.1:c.652A>G, XP_005268511.2:p.Thr613Ala, NP_115796.2:p.Thr597Ala, NP_002578.2:p.Thr597Ala, XP_005268509.2:p.Thr613Ala, XP_016865006.1:p.Thr218Ala, NP_001265542.1:p.Thr613Ala, NP_001265544.1:p.Thr218Ala

Select item 147286263612.

rs1472862636 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141863708 (GRCh38)
5:141243273 (GRCh37)
Canonical SPDI:: NC_000005.10:141863707:G:A
Gene:: PCDH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000062/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.141863708G>A, NC_000005.9:g.141243273G>A, XM_005268454.6:c.2671C>T, XM_005268454.5:c.2671C>T, XM_005268454.4:c.2755C>T, XM_005268454.3:c.2755C>T, XM_005268454.2:c.2755C>T, XM_005268454.1:c.2755C>T, NM_032420.5:c.2623C>T, NM_032420.4:c.2623C>T, NM_032420.3:c.2623C>T, NM_002587.5:c.2623C>T, NM_002587.4:c.2623C>T, XM_005268452.4:c.2671C>T, XM_005268452.3:c.2671C>T, XM_005268452.2:c.2755C>T, XM_005268452.1:c.2755C>T, XM_017009517.3:c.1486C>T, XM_017009517.2:c.1486C>T, XM_017009517.1:c.1486C>T, NM_001278613.2:c.2671C>T, NM_001278613.1:c.2671C>T, NM_001278615.1:c.1486C>T, XP_005268511.2:p.Arg891Cys, NP_115796.2:p.Arg875Cys, NP_002578.2:p.Arg875Cys, XP_005268509.2:p.Arg891Cys, XP_016865006.1:p.Arg496Cys, NP_001265542.1:p.Arg891Cys, NP_001265544.1:p.Arg496Cys

Select item 147193428913.

rs1471934289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141863448 (GRCh38)
5:141243013 (GRCh37)
Canonical SPDI:: NC_000005.10:141863447:G:A
Gene:: PCDH1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.141863448G>A, NC_000005.9:g.141243013G>A, XM_005268454.6:c.2931C>T, XM_005268454.5:c.2931C>T, XM_005268454.4:c.3015C>T, XM_005268454.3:c.3015C>T, XM_005268454.2:c.3015C>T, XM_005268454.1:c.3015C>T, NM_032420.5:c.2883C>T, NM_032420.4:c.2883C>T, NM_032420.3:c.2883C>T, NM_002587.5:c.2883C>T, NM_002587.4:c.2883C>T, XM_005268452.4:c.2931C>T, XM_005268452.3:c.2931C>T, XM_005268452.2:c.3015C>T, XM_005268452.1:c.3015C>T, XM_017009517.3:c.1746C>T, XM_017009517.2:c.1746C>T, XM_017009517.1:c.1746C>T, NM_001278613.2:c.2931C>T, NM_001278613.1:c.2931C>T, NM_001278615.1:c.1746C>T

Select item 147039479014.

rs1470394790 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:141854126 (GRCh38)
5:141233691 (GRCh37)
Canonical SPDI:: NC_000005.10:141854125:T:C
Gene:: PCDH1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000005.10:g.141854126T>C, NC_000005.9:g.141233691T>C, XM_005268454.6:c.*324A>G, NM_032420.5:c.3630A>G, NM_032420.4:c.3630A>G, NM_032420.3:c.3630A>G, XM_005268452.4:c.3678A>G, XM_005268452.3:c.3678A>G, XM_005268452.2:c.3762A>G, XM_005268452.1:c.3762A>G, XM_017009517.3:c.2493A>G, XM_017009517.2:c.2493A>G, XM_017009517.1:c.2493A>G

Select item 146983115315.

rs1469831153 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141864702 (GRCh38)
5:141244267 (GRCh37)
Canonical SPDI:: NC_000005.10:141864701:G:A
Gene:: PCDH1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141864702G>A, NC_000005.9:g.141244267G>A, XM_005268454.6:c.1677C>T, XM_005268454.5:c.1677C>T, XM_005268454.4:c.1761C>T, XM_005268454.3:c.1761C>T, XM_005268454.2:c.1761C>T, XM_005268454.1:c.1761C>T, NM_032420.5:c.1629C>T, NM_032420.4:c.1629C>T, NM_032420.3:c.1629C>T, NM_002587.5:c.1629C>T, NM_002587.4:c.1629C>T, XM_005268452.4:c.1677C>T, XM_005268452.3:c.1677C>T, XM_005268452.2:c.1761C>T, XM_005268452.1:c.1761C>T, XM_017009517.3:c.492C>T, XM_017009517.2:c.492C>T, XM_017009517.1:c.492C>T, NM_001278613.2:c.1677C>T, NM_001278613.1:c.1677C>T, NM_001278615.1:c.492C>T

Select item 146773151916.

rs1467731519 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:141864027 (GRCh38)
5:141243592 (GRCh37)
Canonical SPDI:: NC_000005.10:141864026:C:A,NC_000005.10:141864026:C:T
Gene:: PCDH1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.0005/1 (Korea1K)
HGVS:: NC_000005.10:g.141864027C>A, NC_000005.10:g.141864027C>T, NC_000005.9:g.141243592C>A, NC_000005.9:g.141243592C>T, XM_005268454.6:c.2352G>T, XM_005268454.6:c.2352G>A, XM_005268454.5:c.2352G>T, XM_005268454.5:c.2352G>A, XM_005268454.4:c.2436G>T, XM_005268454.4:c.2436G>A, XM_005268454.3:c.2436G>T, XM_005268454.3:c.2436G>A, XM_005268454.2:c.2436G>T, XM_005268454.2:c.2436G>A, XM_005268454.1:c.2436G>T, XM_005268454.1:c.2436G>A, NM_032420.5:c.2304G>T, NM_032420.5:c.2304G>A, NM_032420.4:c.2304G>T, NM_032420.4:c.2304G>A, NM_032420.3:c.2304G>T, NM_032420.3:c.2304G>A, NM_002587.5:c.2304G>T, NM_002587.5:c.2304G>A, NM_002587.4:c.2304G>T, NM_002587.4:c.2304G>A, XM_005268452.4:c.2352G>T, XM_005268452.4:c.2352G>A, XM_005268452.3:c.2352G>T, XM_005268452.3:c.2352G>A, XM_005268452.2:c.2436G>T, XM_005268452.2:c.2436G>A, XM_005268452.1:c.2436G>T, XM_005268452.1:c.2436G>A, XM_017009517.3:c.1167G>T, XM_017009517.3:c.1167G>A, XM_017009517.2:c.1167G>T, XM_017009517.2:c.1167G>A, XM_017009517.1:c.1167G>T, XM_017009517.1:c.1167G>A, NM_001278613.2:c.2352G>T, NM_001278613.2:c.2352G>A, NM_001278613.1:c.2352G>T, NM_001278613.1:c.2352G>A, NM_001278615.1:c.1167G>T, NM_001278615.1:c.1167G>A

Select item 146626151217.

rs1466261512 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:141863269 (GRCh38)
5:141242834 (GRCh37)
Canonical SPDI:: NC_000005.10:141863268:C:T
Gene:: PCDH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.141863269C>T, NC_000005.9:g.141242834C>T, XM_005268454.6:c.3110G>A, XM_005268454.5:c.3110G>A, XM_005268454.4:c.3194G>A, XM_005268454.3:c.3194G>A, XM_005268454.2:c.3194G>A, XM_005268454.1:c.3194G>A, NM_032420.5:c.3062G>A, NM_032420.4:c.3062G>A, NM_032420.3:c.3062G>A, NM_002587.5:c.3062G>A, NM_002587.4:c.3062G>A, XM_005268452.4:c.3110G>A, XM_005268452.3:c.3110G>A, XM_005268452.2:c.3194G>A, XM_005268452.1:c.3194G>A, XM_017009517.3:c.1925G>A, XM_017009517.2:c.1925G>A, XM_017009517.1:c.1925G>A, NM_001278613.2:c.3110G>A, NM_001278613.1:c.3110G>A, NM_001278615.1:c.1925G>A, XP_005268511.2:p.Ser1037Asn, NP_115796.2:p.Ser1021Asn, NP_002578.2:p.Ser1021Asn, XP_005268509.2:p.Ser1037Asn, XP_016865006.1:p.Ser642Asn, NP_001265542.1:p.Ser1037Asn, NP_001265544.1:p.Ser642Asn

Select item 146603383718.

rs1466033837 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141863280 (GRCh38)
5:141242845 (GRCh37)
Canonical SPDI:: NC_000005.10:141863279:G:A
Gene:: PCDH1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.141863280G>A, NC_000005.9:g.141242845G>A, XM_005268454.6:c.3099C>T, XM_005268454.5:c.3099C>T, XM_005268454.4:c.3183C>T, XM_005268454.3:c.3183C>T, XM_005268454.2:c.3183C>T, XM_005268454.1:c.3183C>T, NM_032420.5:c.3051C>T, NM_032420.4:c.3051C>T, NM_032420.3:c.3051C>T, NM_002587.5:c.3051C>T, NM_002587.4:c.3051C>T, XM_005268452.4:c.3099C>T, XM_005268452.3:c.3099C>T, XM_005268452.2:c.3183C>T, XM_005268452.1:c.3183C>T, XM_017009517.3:c.1914C>T, XM_017009517.2:c.1914C>T, XM_017009517.1:c.1914C>T, NM_001278613.2:c.3099C>T, NM_001278613.1:c.3099C>T, NM_001278615.1:c.1914C>T

Select item 146547061319.

rs1465470613 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:141864150 (GRCh38)
5:141243715 (GRCh37)
Canonical SPDI:: NC_000005.10:141864149:G:A
Gene:: PCDH1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.141864150G>A, NC_000005.9:g.141243715G>A, XM_005268454.6:c.2229C>T, XM_005268454.5:c.2229C>T, XM_005268454.4:c.2313C>T, XM_005268454.3:c.2313C>T, XM_005268454.2:c.2313C>T, XM_005268454.1:c.2313C>T, NM_032420.5:c.2181C>T, NM_032420.4:c.2181C>T, NM_032420.3:c.2181C>T, NM_002587.5:c.2181C>T, NM_002587.4:c.2181C>T, XM_005268452.4:c.2229C>T, XM_005268452.3:c.2229C>T, XM_005268452.2:c.2313C>T, XM_005268452.1:c.2313C>T, XM_017009517.3:c.1044C>T, XM_017009517.2:c.1044C>T, XM_017009517.1:c.1044C>T, NM_001278613.2:c.2229C>T, NM_001278613.1:c.2229C>T, NM_001278615.1:c.1044C>T

Select item 146311822220.

rs1463118222 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:141857385 (GRCh38)
5:141236950 (GRCh37)
Canonical SPDI:: NC_000005.10:141857384:G:A,NC_000005.10:141857384:G:C
Gene:: PCDH1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
A=0.000106/2 (TOMMO)
HGVS:: NC_000005.10:g.141857385G>A, NC_000005.10:g.141857385G>C, NC_000005.9:g.141236950G>A, NC_000005.9:g.141236950G>C, XM_005268454.6:c.3234C>T, XM_005268454.6:c.3234C>G, XM_005268454.5:c.3234C>T, XM_005268454.5:c.3234C>G, XM_005268454.4:c.3318C>T, XM_005268454.4:c.3318C>G, XM_005268454.3:c.3318C>T, XM_005268454.3:c.3318C>G, XM_005268454.2:c.3318C>T, XM_005268454.2:c.3318C>G, XM_005268454.1:c.3318C>T, XM_005268454.1:c.3318C>G, NM_032420.5:c.3186C>T, NM_032420.5:c.3186C>G, NM_032420.4:c.3186C>T, NM_032420.4:c.3186C>G, NM_032420.3:c.3186C>T, NM_032420.3:c.3186C>G, XM_005268452.4:c.3234C>T, XM_005268452.4:c.3234C>G, XM_005268452.3:c.3234C>T, XM_005268452.3:c.3234C>G, XM_005268452.2:c.3318C>T, XM_005268452.2:c.3318C>G, XM_005268452.1:c.3318C>T, XM_005268452.1:c.3318C>G, XM_017009517.3:c.2049C>T, XM_017009517.3:c.2049C>G, XM_017009517.2:c.2049C>T, XM_017009517.2:c.2049C>G, XM_017009517.1:c.2049C>T, XM_017009517.1:c.2049C>G

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